ClinVar Miner

List of variants reported as pathogenic for Waardenburg-Shah syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) rs104894388
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer) rs1569167586
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) rs1569167515
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_006941.4(SOX10):c.429-1G>A rs1569169328
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.470C>T (p.Ala157Val) rs121909117
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) rs1482985217
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) rs397515366
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) rs2145768481
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) rs74315514
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) rs756120041
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs) rs1568823517
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly) rs267606779
NM_207034.3(EDN3):c.335A>G (p.His112Arg) rs267606778
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe) rs74315384
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter) rs74315385

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