ClinVar Miner

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

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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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.1063C>T (p.Gln355Ter) rs1932137446
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs) rs1601878759
NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) rs1932130190
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer) rs1569167586
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter) rs2145777835
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) rs1569167515
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.1379del (p.Tyr460fs) rs1932122748
NM_006941.4(SOX10):c.198_262del (p.Lys67fs) rs2145777238
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter) rs1555939491
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.267del (p.Met90fs) rs2145777226
NM_006941.4(SOX10):c.299_300insA (p.Ser100fs) rs2145777129
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) rs1932464388
NM_006941.4(SOX10):c.336G>A (p.Met112Ile) rs2145777042
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) rs1932463755
NM_006941.4(SOX10):c.366_376del (p.Ala123fs) rs2145776991
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.428+1G>A rs1932460904
NM_006941.4(SOX10):c.429-1G>A rs1569169328
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) rs1932280017
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) rs1932279377
NM_006941.4(SOX10):c.470C>T (p.Ala157Val) rs121909117
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) rs1482985217
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) rs397515366
NM_006941.4(SOX10):c.487C>T (p.Gln163Ter) rs1569169289
NM_006941.4(SOX10):c.502del (p.His168fs) rs1932278265
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter) rs2145768481
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006941.4(SOX10):c.529_556del (p.Arg177fs) rs2145768352
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) rs74315514
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) rs756120041
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.776_780del (p.Asp259fs) rs1932149722
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) rs1932482365
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493

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