ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 4C

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Total variants: 13
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HGVS dbSNP
NM_006941.3(SOX10):c.1095dup (p.Pro366fs) rs1555937395
NM_006941.3(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
NM_006941.3(SOX10):c.141del (p.Pro48fs) rs1064796049
NM_006941.3(SOX10):c.255_274dup (p.Val92fs) rs1555939476
NM_006941.3(SOX10):c.271_275del (p.Pro91fs) rs483353057
NM_006941.3(SOX10):c.298_300delinsGG (p.Ser100fs) rs1555939460
NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.3(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.3(SOX10):c.380dup (p.His128fs) rs1555939421
NM_006941.3(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.3(SOX10):c.452G>C (p.Arg151Pro) rs1373797370
NM_006941.3(SOX10):c.586G>T (p.Glu196Ter) rs763210407
NM_006941.3(SOX10):c.934dup (p.Ser312fs) rs1555937463

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