ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP
NM_001354604.2(MITF):c.*575_*576dup rs59665466
NM_006941.3(SOX10):c.*475G>A rs139883
NM_006941.3(SOX10):c.*537G>C rs565069012
NM_006941.3(SOX10):c.*711C>T rs60962899
NM_006941.3(SOX10):c.429-12A>G rs753723642
NM_006941.4(SOX10):c.*27G>A
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516
NM_006941.4(SOX10):c.428+10C>G rs201638602
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.927T>C (p.His309=) rs139884
NM_181458.4(PAX3):c.-205C>T rs565554258
NM_181458.4(PAX3):c.-359G>T rs45501095
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924
NM_181458.4(PAX3):c.1174-10G>C rs2855268
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+104G>A rs142988099
NM_181458.4(PAX3):c.1420+186G>A
NM_181458.4(PAX3):c.1420+220C>T rs45624434
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092
NM_181458.4(PAX3):c.321+10C>A rs140960868
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
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.944C>A (p.Thr315Lys) rs2234675

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