ClinVar Miner

List of variants studied for Waardenburg-Shah syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 0.00009
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00006
NM_006941.4(SOX10):c.768G>A (p.Pro256=) rs773109683 0.00005
NM_006941.4(SOX10):c.975C>T (p.Ala325=) rs760496644 0.00004
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745 0.00002
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser) rs760677132 0.00001
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val) rs1212186974 0.00001
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 0.00001
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr) rs770105416 0.00001
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val) rs2137603390
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs) rs2137599519
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.550T>C (p.Ser184Pro) rs1555290659
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.688G>C (p.Val230Leu)
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001122659.3(EDNRB):c.777del (p.Val260fs) rs2137610942
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001122659.3(EDNRB):c.801+1G>T rs2137610842
NM_001122659.3(EDNRB):c.801+2T>C rs2137610838
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)
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.1095dup (p.Pro366fs) rs1555937395
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
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.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.141del (p.Pro48fs) rs1064796049
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.255_274dup (p.Val92fs) rs1555939476
NM_006941.4(SOX10):c.271_275del (p.Pro91fs) rs483353057
NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs) rs1555939460
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.4(SOX10):c.336G>T (p.Met112Ile) rs2145777042
NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)
NM_006941.4(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter) rs2145776981
NM_006941.4(SOX10):c.380dup (p.His128fs) rs1555939421
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
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.452G>C (p.Arg151Pro) rs1373797370
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.481C>T (p.Arg161Cys) rs2145768544
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) rs397515366
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
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.576del (p.Glu194fs)
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter) rs763210407
NM_006941.4(SOX10):c.610C>T (p.Gln204Ter) rs2145768136
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro) rs1332625359
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_006941.4(SOX10):c.934dup (p.Ser312fs) rs1555937463
NM_006941.4(SOX10):c.979del (p.Ala327fs) rs1932141204
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.332G>T (p.Cys111Phe) rs773779627
NM_207034.3(EDN3):c.334C>A (p.His112Asn) rs977075341
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
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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