ClinVar Miner

List of variants studied for Waardenburg syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_001122659.3(EDNRB):c.*859C>T rs886050324
NM_001122659.3(EDNRB):c.*918_*921del rs760796267
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124
NM_001301130.2(POLR2F):c.293+5240_293+5241del rs577740783
NM_001354604.2(MITF):c.*2159dup rs550555819
NM_001354604.2(MITF):c.*2160del rs565618309
NM_001354604.2(MITF):c.*413_*416del rs886058810
NM_001354604.2(MITF):c.*415_*418AAGA[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_006941.3(SOX10):c.*1179G>A rs749495956
NM_006941.3(SOX10):c.*158A>G rs886057494
NM_006941.3(SOX10):c.*475G>A rs139883
NM_006941.3(SOX10):c.*537G>C rs565069012
NM_006941.3(SOX10):c.*643A>G rs886057493
NM_006941.3(SOX10):c.*711C>T rs60962899
NM_006941.3(SOX10):c.*712G>T rs377420828
NM_006941.3(SOX10):c.*932G>A rs8141371
NM_006941.3(SOX10):c.-63A>G rs886057496
NM_006941.3(SOX10):c.429-12A>G rs753723642
NM_006941.3(SOX10):c.507G>A (p.Pro169=) rs199703563
NM_006941.3(SOX10):c.585C>T (p.Ala195=) rs751780784
NM_006941.3(SOX10):c.746T>A (p.Leu249Gln) rs886057495
NM_006941.3(SOX10):c.906G>A (p.Pro302=) rs774324385
NM_006941.3(SOX10):c.975C>T (p.Ala325=) rs760496644
NM_006941.4(SOX10):c.*27G>A
NM_006941.4(SOX10):c.*327G>A
NM_006941.4(SOX10):c.*568T>A
NM_006941.4(SOX10):c.*830G>C
NM_006941.4(SOX10):c.-166C>T
NM_006941.4(SOX10):c.-29A>G
NM_006941.4(SOX10):c.-9G>A
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn)
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu)
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284
NM_006941.4(SOX10):c.135C>T (p.Ser45=)
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652
NM_006941.4(SOX10):c.428+10C>G rs201638602
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218
NM_006941.4(SOX10):c.918C>T (p.His306=) rs200226880
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884
NM_006941.4(SOX10):c.976G>A (p.Val326Met)
NM_181458.4(PAX3):c.-156C>A rs867534042
NM_181458.4(PAX3):c.-156C>T rs867534042
NM_181458.4(PAX3):c.-205C>T rs565554258
NM_181458.4(PAX3):c.-248A>C rs886055677
NM_181458.4(PAX3):c.-359G>T rs45501095
NM_181458.4(PAX3):c.-99C>T
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839
NM_181458.4(PAX3):c.1174-10G>C rs2855268
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile) rs374318137
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe) rs886055675
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857
NM_181458.4(PAX3):c.1420+103C>T
NM_181458.4(PAX3):c.1420+104G>A rs142988099
NM_181458.4(PAX3):c.1420+112dup rs368725878
NM_181458.4(PAX3):c.1420+125T>G rs886055674
NM_181458.4(PAX3):c.1420+165G>T
NM_181458.4(PAX3):c.1420+186G>A
NM_181458.4(PAX3):c.1420+201C>T rs573451372
NM_181458.4(PAX3):c.1420+220C>T rs45624434
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.144C>T (p.Gly48=)
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092
NM_181458.4(PAX3):c.321+10C>A rs140960868
NM_181458.4(PAX3):c.342G>A (p.Val114=)
NM_181458.4(PAX3):c.47C>T (p.Pro16Leu) rs886055676
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675
NM_181458.4(PAX3):c.958+9G>A rs185119406
NM_181458.4(PAX3):c.981C>T (p.Thr327=)
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
NM_207034.3(EDN3):c.*831G>A rs886056886

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