ClinVar Miner

List of variants reported as uncertain significance for Waardenburg syndrome by Illumina Clinical Services Laboratory,Illumina

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Total variants: 57
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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_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.*576dup rs59665466
NM_006941.3(SOX10):c.*1179G>A rs749495956
NM_006941.3(SOX10):c.*158A>G rs886057494
NM_006941.3(SOX10):c.*643A>G rs886057493
NM_006941.3(SOX10):c.*712G>T rs377420828
NM_006941.3(SOX10):c.-63A>G rs886057496
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_006941.4(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.1244C>T (p.Ser415Leu)
NM_006941.4(SOX10):c.135C>T (p.Ser45=)
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)
NM_006941.4(SOX10):c.918C>T (p.His306=) rs200226880
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.-248A>C rs886055677
NM_181458.4(PAX3):c.-99C>T
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205
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.1420+103C>T
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+201C>T rs573451372
NM_181458.4(PAX3):c.144C>T (p.Gly48=)
NM_181458.4(PAX3):c.342G>A (p.Val114=)
NM_181458.4(PAX3):c.47C>T (p.Pro16Leu) rs886055676
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
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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