ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 2

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.355-1062G>C rs1236436555 0.00001
NM_001354604.2(MITF):c.666+1G>A rs1246772999 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NC_000003.11:g.(?_69987065)_(69997137_?)del
NM_000248.4(MITF):c.30T>G (p.Tyr10Ter)
NM_000248.4(MITF):c.31C>T (p.Gln11Ter) rs2471579611
NM_001354604.2(MITF):c.1001T>G (p.Leu334Arg)
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+1G>C
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1051G>A (p.Gly351Arg)
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.1195del (p.Ala399fs)
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.393dup (p.Gln132fs)
NM_001354604.2(MITF):c.648dup (p.Arg217fs)
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.660_666+6del rs2471591650
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.762+1G>A rs2471598592
NM_001354604.2(MITF):c.802_803inv (p.Gln268Ter)
NM_001354604.2(MITF):c.878_879dup (p.Ala294fs)
NM_001354604.2(MITF):c.880+1G>A
NM_001354604.2(MITF):c.880+2T>C
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.950A>T (p.Asn317Ile)
NM_001354604.2(MITF):c.951C>A (p.Asn317Lys)
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.953_955+3del rs2471630430
NM_001354604.2(MITF):c.955+1G>T rs2107519634
NM_001354604.2(MITF):c.956-2A>G rs2066399731
NM_001354604.2(MITF):c.961C>G (p.Arg321Gly)
NM_001354604.2(MITF):c.962G>T (p.Arg321Leu)
NM_001354604.2(MITF):c.967A>G (p.Arg323Gly)
NM_006941.4(SOX10):c.1086dup (p.Pro363fs) rs2145761047
NM_006941.4(SOX10):c.1091del (p.Gln364fs) rs1555937398
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.255G>A (p.Trp85Ter)
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly) rs1057518656
NM_006941.4(SOX10):c.335T>G (p.Met112Arg) rs1932463844
NM_006941.4(SOX10):c.356_357del (p.Arg119fs) rs2518052383
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) rs1932462410
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.428+2T>C rs1601886662
NM_006941.4(SOX10):c.428+2T>G
NM_006941.4(SOX10):c.430del (p.Leu144fs) rs1555938422
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter) rs2518042216

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