ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 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
NC_000003.11:g.(?_69987065)_(69997137_?)del
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.777del (p.Val260fs) rs2137610942
NM_001122659.3(EDNRB):c.801+1G>T rs2137610842
NM_001122659.3(EDNRB):c.801+2T>C rs2137610838
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu) rs2107536936
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1180-2A>G rs1064797294
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer) rs2107552061
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) rs2107478777
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.660_666+6del
NM_001354604.2(MITF):c.666+1G>A rs1246772999
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.762+1G>A
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) rs1057518765
NM_001354604.2(MITF):c.899_900del (p.Glu300fs) rs2107519404
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) rs1553704086
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.953_955+3del
NM_001354604.2(MITF):c.955+1G>T rs2107519634
NM_001354604.2(MITF):c.956-2A>G rs2066399731
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
NM_006941.4(SOX10):c.1091del (p.Gln364fs) rs1555937398
NM_006941.4(SOX10):c.1095dup (p.Pro366fs) rs1555937395
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.141del (p.Pro48fs) rs1064796049
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.316C>G (p.Arg106Gly) rs1057518656
NM_006941.4(SOX10):c.335T>C (p.Met112Thr) rs1932463844
NM_006941.4(SOX10):c.335T>G (p.Met112Arg) rs1932463844
NM_006941.4(SOX10):c.336G>T (p.Met112Ile) rs2145777042
NM_006941.4(SOX10):c.356_357del (p.Arg119fs)
NM_006941.4(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter) rs2145776981
NM_006941.4(SOX10):c.380dup (p.His128fs) rs1555939421
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) rs1932462410
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly) rs1555939415
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.422T>C (p.Leu141Pro) rs2145776911
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.428+2T>C rs1601886662
NM_006941.4(SOX10):c.430del (p.Leu144fs) rs1555938422
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.481C>T (p.Arg161Cys) rs2145768544
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
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.934dup (p.Ser312fs) rs1555937463
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)
NM_006941.4(SOX10):c.979del (p.Ala327fs) rs1932141204
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181458.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys) rs1419548558
NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del) rs1553593965
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys) rs1279989885
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp) rs2106203892
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181458.4(PAX3):c.239A>G (p.His80Arg) rs1574771535
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter) rs1695336858
NM_181458.4(PAX3):c.281G>T (p.Gly94Val) rs2106203654
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)
NM_181458.4(PAX3):c.452-9C>A rs1379006499
NM_181458.4(PAX3):c.464del (p.Ser155fs) rs1553592766
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181458.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs) rs1553575179
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro) rs1692619812
NM_181458.4(PAX3):c.768del (p.Lys257fs) rs2106095025
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter) rs1553575159
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181458.4(PAX3):c.809G>A (p.Arg270His)
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro) rs2106074603
NM_181458.4(PAX3):c.86-2A>G rs1553594069
NM_181458.4(PAX3):c.921del (p.Ser308fs) rs1553572946
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627
NM_207034.3(EDN3):c.334C>A (p.His112Asn) rs977075341

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