ClinVar Miner

List of variants reported as likely benign for Waardenburg syndrome

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Total variants: 11
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HGVS dbSNP
NM_001301130.2(POLR2F):c.293+5240_293+5241del rs577740783
NM_001354604.2(MITF):c.*2159dup rs550555819
NM_006941.3(SOX10):c.*932G>A rs8141371
NM_006941.3(SOX10):c.507G>A (p.Pro169=) rs199703563
NM_006941.3(SOX10):c.975C>T (p.Ala325=) rs760496644
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331

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