ClinVar Miner

List of variants in gene combination POLR2F, SOX10 reported as likely pathogenic for Waardenburg syndrome type 2

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
NM_006941.4(SOX10):c.1091del (p.Gln364fs) rs1555937398
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly) rs1057518656
NM_006941.4(SOX10):c.335T>G (p.Met112Arg) rs1932463844
NM_006941.4(SOX10):c.356_357del (p.Arg119fs)
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) rs1932462410
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly) rs1555939415
NM_006941.4(SOX10):c.428+2T>C rs1601886662
NM_006941.4(SOX10):c.430del (p.Leu144fs) rs1555938422
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)

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