ClinVar Miner

List of variants studied for Waardenburg syndrome

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_006941.4(SOX10):c.*475G>A rs139883 0.58862
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516 0.07056
NM_006941.4(SOX10):c.*932G>A rs8141371 0.03757
NM_006941.4(SOX10):c.*711C>T rs60962899 0.03747
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876 0.03745
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_181458.4(PAX3):c.1420+104G>A rs142988099 0.01258
NM_181458.4(PAX3):c.1420+220C>T rs45624434 0.01121
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331 0.00653
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_006941.4(SOX10):c.-166C>T rs548479592 0.00059
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_006941.4(SOX10):c.*643A>G rs886057493 0.00038
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760 0.00031
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_006941.4(SOX10):c.428+10C>G rs201638602 0.00026
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839 0.00022
NM_181458.4(PAX3):c.-205C>T rs565554258 0.00020
NM_181458.4(PAX3):c.-359G>T rs45501095 0.00019
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_181458.4(PAX3):c.567C>T (p.Asp189=) rs774455796 0.00012
NM_006941.4(SOX10):c.*158A>G rs886057494 0.00011
NM_181458.4(PAX3):c.958+9G>A rs185119406 0.00011
NM_006941.4(SOX10):c.918C>T (p.His306=) rs200226880 0.00007
NM_181458.4(PAX3):c.1420+103C>T rs544726519 0.00007
NM_006941.4(SOX10):c.*27G>A rs563902004 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_181458.4(PAX3):c.1420+186G>A rs78035924 0.00006
NM_006941.4(SOX10):c.*327G>A rs1473316530 0.00004
NM_006941.4(SOX10):c.507G>A (p.Pro169=) rs199703563 0.00004
NM_006941.4(SOX10):c.975C>T (p.Ala325=) rs760496644 0.00004
NM_006941.4(SOX10):c.976G>A (p.Val326Met) rs750224655 0.00004
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620 0.00004
NM_207034.3(EDN3):c.*831G>A rs886056886 0.00004
NM_006941.4(SOX10):c.*1179G>A rs749495956 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_181458.4(PAX3):c.-156C>T rs867534042 0.00003
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn) rs551334981 0.00002
NM_181458.4(PAX3):c.981C>T (p.Thr327=) rs374429328 0.00002
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 0.00001
NM_001354604.2(MITF):c.*2160del rs565618309 0.00001
NM_006941.4(SOX10):c.*537G>C rs565069012 0.00001
NM_006941.4(SOX10):c.*568T>A rs1226122613 0.00001
NM_006941.4(SOX10):c.-29A>G rs761658024 0.00001
NM_006941.4(SOX10):c.-63A>G rs886057496 0.00001
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu) rs1348367862 0.00001
NM_006941.4(SOX10):c.585C>T (p.Ala195=) rs751780784 0.00001
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr) rs774135262 0.00001
NM_006941.4(SOX10):c.906G>A (p.Pro302=) rs774324385 0.00001
NM_181458.4(PAX3):c.-248A>C rs886055677 0.00001
NM_181458.4(PAX3):c.-99C>T rs1695446616 0.00001
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924 0.00001
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205 0.00001
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe) rs886055675 0.00001
NM_181458.4(PAX3):c.1420+125T>G rs886055674 0.00001
NM_181458.4(PAX3):c.47C>T (p.Pro16Leu) rs886055676 0.00001
NM_001122659.3(EDNRB):c.*859C>T rs886050324
NM_001122659.3(EDNRB):c.*918_*921del rs760796267
NM_001354604.2(MITF):c.*2159dup rs550555819
NM_001354604.2(MITF):c.*413_*416del rs886058810
NM_001354604.2(MITF):c.*415AAGA[2] rs886058811
NM_001354604.2(MITF):c.*574_*576dup rs59665466
NM_001354604.2(MITF):c.*575_*576dup rs59665466
NM_001354604.2(MITF):c.*576dup rs59665466
NM_001354604.2(MITF):c.1180-2A>G rs1064797294
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) rs1057518765
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_006941.4(SOX10):c.*1084TC[1] rs577740783
NM_006941.4(SOX10):c.*712G>T rs377420828
NM_006941.4(SOX10):c.*830G>C rs1932094243
NM_006941.4(SOX10):c.-9G>A rs1237344324
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr) rs551334981
NM_006941.4(SOX10):c.135C>T (p.Ser45=) rs1569171316
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu) rs1932470433
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
NM_006941.4(SOX10):c.429-12A>G rs753723642
NM_006941.4(SOX10):c.746T>A (p.Leu249Gln) rs886057495
NM_181458.4(PAX3):c.-156C>A rs867534042
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser) rs1692141813
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile) rs374318137
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser) rs1691318066
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val) rs1691316648
NM_181458.4(PAX3):c.1420+112dup rs368725878
NM_181458.4(PAX3):c.1420+165G>T rs1395471577
NM_181458.4(PAX3):c.1420+201C>T rs573451372
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.144C>T (p.Gly48=) rs1252612539
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.342G>A (p.Val114=) rs1020469778
NM_207034.3(EDN3):c.*138_*139insCC rs886056876
NM_207034.3(EDN3):c.*139_*140del rs1555850390
NM_207034.3(EDN3):c.*139del rs886056877
NM_207034.3(EDN3):c.*148_*149del rs11475273

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