ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_000899.5(KITLG):c.94C>T (p.Arg32Cys) rs1870699640 0.00001
NM_001354604.2(MITF):c.355-1062G>C rs1236436555 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser) rs769650688 0.00001
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199 0.00001
GRCh37/hg19 22q13.1(chr22:38155164-38541997)
GRCh37/hg19 2q36.1(chr2:222199886-222298997)
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
NC_000003.11:g.(?_69985874)_(69990502_?)del
NC_000003.11:g.(?_69985874)_(70014399_?)del
NC_000003.11:g.(?_70013978)_(70014399_?)del
NM_000248.4(MITF):c.33+1G>A rs1553701477
NM_000899.5(KITLG):c.443T>C (p.Ile148Thr) rs751013211
NM_000899.5(KITLG):c.550_551del (p.Met184fs) rs1404903521
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_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter) rs2107537021
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) rs149617956
NM_001354604.2(MITF):c.1291dup (p.Cys431fs) rs2107552171
NM_001354604.2(MITF):c.1377del (p.Asn459fs) rs2066652447
NM_001354604.2(MITF):c.367del (p.Leu123fs)
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.709dup (p.Tyr237fs) rs2065962813
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001354604.2(MITF):c.815del (p.Pro272fs)
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.955+1G>C rs2107519634
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs) rs2066400330
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) rs1932137446
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.1160_1179dup (p.Ser394fs) rs1601878759
NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) rs1932130190
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
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.12_13delinsAT (p.Gln5Ter) rs2145777835
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.1379del (p.Tyr460fs) rs1932122748
NM_006941.4(SOX10):c.198_262del (p.Lys67fs) rs2145777238
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter) rs1555939491
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.267del (p.Met90fs) rs2145777226
NM_006941.4(SOX10):c.299_300insA (p.Ser100fs) rs2145777129
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) rs1932464388
NM_006941.4(SOX10):c.336G>A (p.Met112Ile) rs2145777042
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) rs1932463755
NM_006941.4(SOX10):c.366_376del (p.Ala123fs) rs2145776991
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.428+1G>A rs1932460904
NM_006941.4(SOX10):c.429-1G>A rs1569169328
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) rs1932280017
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) rs1932279377
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.487C>T (p.Gln163Ter) rs1569169289
NM_006941.4(SOX10):c.502del (p.His168fs) rs1932278265
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) rs2145768481
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006941.4(SOX10):c.529_556del (p.Arg177fs) rs2145768352
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.776_780del (p.Asp259fs) rs1932149722
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) rs1932482365
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181458.4(PAX3):c.*175C>T rs780660984
NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs) rs1574646155
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter) rs147111779
NM_181458.4(PAX3):c.123del (p.Gly42fs) rs2106204266
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys) rs1574772091
NM_181458.4(PAX3):c.139A>C (p.Asn47His) rs104893653
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.143del (p.Gly48fs) rs1695346408
NM_181458.4(PAX3):c.149C>T (p.Pro50Leu) rs104893650
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del) rs1559320436
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
NM_181458.4(PAX3):c.238C>G (p.His80Asp) rs387906947
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg) rs483353059
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer) rs1695337485
NM_181458.4(PAX3):c.268T>C (p.Tyr90His) rs104893654
NM_181458.4(PAX3):c.268_281del (p.Tyr90fs) rs1559320252
NM_181458.4(PAX3):c.288del (p.Arg97fs)
NM_181458.4(PAX3):c.365_369del (p.Lys122fs) rs1559318562
NM_181458.4(PAX3):c.366_367del (p.Asn125fs) rs2106200406
NM_181458.4(PAX3):c.372_373del (p.Asn125fs) rs2106200388
NM_181458.4(PAX3):c.386_398del (p.Phe129fs) rs1559318494
NM_181458.4(PAX3):c.415A>T (p.Lys139Ter) rs876661317
NM_181458.4(PAX3):c.556del (p.His186fs) rs1559316542
NM_181458.4(PAX3):c.558_559del (p.His186fs) rs1559316535
NM_181458.4(PAX3):c.586+2T>A rs2106196576
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile) rs1692623308
NM_181458.4(PAX3):c.713T>C (p.Phe238Ser) rs2106095147
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter) rs2106074565
NM_181458.4(PAX3):c.879dup (p.Phe294fs) rs1553572967
NM_181458.4(PAX3):c.925dup (p.Glu309fs) rs1692180906
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
Single allele

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