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{
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{
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{
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"Source":"GeneReviews",
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{
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{
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"ReferenceRegion":"X:139586481-139586526",
"Disease":"MRGH",
"NormalMax":15,
"PathologicMin":22
},
{
"VariantType":"Repeat",
"LocusId":"TBP",
"HGNCId":11588,
"InheritanceMode":"AD",
"DisplayRU":"CAN",
"SourceDisplay":"GeneReviews_Internet_2019-09-12",
"Source":"GeneReviews",
"SourceId":"NBK1438",
"LocusStructure":"(GCA)*",
"ReferenceRegion":"6:170870994-170871109",
"Disease":"SCA17",
"SweGenMean":36.24,
"SweGenStd":2.293,
"NormalMax":40,
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},
{
"VariantType":"Repeat",
"LocusId":"TBX1",
"HGNCId":11592,
"InheritanceMode":"AD",
"DisplayRU":"GCN",
"SourceDisplay":"GeneReviews_Internet_2019-11-07",
"Source":"GeneReviews",
"SourceId":"NBK535148",
"LocusStructure":"(GCN)*",
"ReferenceRegion":"22:19754285-19754330",
"Disease":"TOF",
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},
{
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"LocusId":"TCF4",
"HGNCId":11634,
"InheritanceMode":"AD",
"Disease":"FECD3",
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"Source":"GeneReviews",
"SourceId":"NBK535148",
"LocusStructure":"(CAG)*",
"ReferenceRegion":"18:53253386-53253458",
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},
{
"VariantType":"Repeat",
"LocusId":"TNRC6A",
"HGNCId":11969,
"InheritanceMode":"AD",
"DisplayRU":"TTTCA",
"SourceDisplay":"Ishiura_et_al_(2018)_Nature_Genetics_50_581-90",
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"SourceId":"29507423",
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"ReferenceRegion":[
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"16:24624800-24624804",
"16:24624805-24624849"
],
"VariantType":[
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"Repeat",
"Repeat"
],
"VariantId":[
"TNRC6A_TTTTA_5P",
"TNRC6A",
"TNRC6A_TTTTA_3P"
],
"PathologicRegion":"16:24624800-24624804",
"Disease":"FAME6",
"NormalMax":1,
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},
{
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"LocusId":"XYLT1",
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"DisplayRU":"GGC",
"SourceDisplay":"LaCroix_et_al_(2018)_AJHG_104(1)_35-44",
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"SourceId":"30554721",
"LocusStructure":"(GGC)*",
"ReferenceRegion":"16:17564765-17564778",
"Disease":"DBQD2",
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"PathologicMin":70
},
{
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"InheritanceMode":"AD",
"DisplayRU":"GCN",
"SourceDisplay":"GeneReviews_Internet_2019-11-07",
"Source":"GeneReviews",
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"LocusStructure":"(GCN)*",
"ReferenceRegion":"13:100637703-100637747",
"Disease":"HPE5",
"NormalMax":15,
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},
{
"VariantType":"Repeat",
"LocusId":"ZIC3",
"HGNCId":12874,
"InheritanceMode":"XR",
"DisplayRU":"GCN",
"SourceDisplay":"GeneReviews_Internet_2019-11-07",
"Source":"GeneReviews",
"SourceId":"NBK535148",
"LocusStructure":"(GCN)*",
"ReferenceRegion":"X:136648986-136649015",
"Disease":"VACTERLX",
"NormalMax":10,
"PathologicMin":12
},
{
"VariantType":"Repeat",
"LocusId":"NIPA1",
"HGNCId":17043,
"InheritanceMode":"AD",
"DisplayRU":"GCG",
"SourceDisplay":"Tazelaar_et_al_(2019)_Neurobiol_Aging_74_234.e9-234.e15",
"Source":"PubMed",
"SourceId":"30342764",
"LocusStructure":"(CGC)*",
"ReferenceRegion":"15:23086366-23086390",
"Disease":"ALS_-_susceptibility_to",
"NormalMax":8,
"PathologicMin":10000
},
{
"VariantType":"Repeat",
"LocusId":"GLS",
"HGNCId":4331,
"InheritanceMode":"AR",
"DisplayRU":"GCA",
"SourceDisplay":"van_Kuilenburg_et_al_(2019)_NEJM_380_1433-1441",
"Source":"PubMed",
"SourceId":"30970188",
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"SweGenStd":4.000,
"LocusStructure":"(GCA)*",
"ReferenceRegion":"2:191745598-191745646",
"Disease":"GDPAG",
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"PathologicMin":90
},
{
"VariantType":"Repeat",
"LocusId":"RFC1",
"HGNCId":9969,
"InheritanceMode":"AR",
"DisplayRU":"AARRG",
"SourceDisplay":"Cortese_et_al_2019_Nat_Gen",
"Source":"PubMed",
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"SweGenMean":26.77,
"SweGenStd":18.68,
"LocusStructure":"(AARRG)*",
"ReferenceRegion":"4:39350044-39350099",
"Disease":"CANVAS",
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},
{
"LocusId":"POLG",
"HGNCId":9179,
"DisplayRU":"CTG",
"InheritanceMode":"-",
"Disease":"-",
"SourceDisplay":"Research_only_-_contact_CMMS_KUH_regarding_findings",
"Source":"Expert",
"SourceId":"CMMS",
"LocusStructure":"(CTG)*TTG(CTG)*",
"VariantType":["Repeat","Repeat"],
"VariantId":["POLG_I","POLG_II"],
"ReferenceRegion":["15:89876821-89876826",
"15:89876830-89876859"],
"NormalMax":15,
"PathologicMin":10000,
"PathologicRegion":"15:89876830-89876859"
}
]