ClinVar Miner

List of variants in gene combination POLR2F, SOX10 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_001301130.2(POLR2F):c.293+6519_293+6523del rs1569167586
NM_001301130.2(POLR2F):c.293+6787G>C rs74315516
NM_001301130.2(POLR2F):c.293+6813del rs397515372
NM_001301130.2(POLR2F):c.293+6974G>T rs74315518
NM_001301130.2(POLR2F):c.293+6978G>A rs74315521
NM_001301130.2(POLR2F):c.294-2618G>C rs73415876
NM_001301130.2(POLR2F):c.294-8060G>A rs121909117
NM_001301130.2(POLR2F):c.294-8073_294-8072insAGGAGC rs397515366
NM_001301130.2(POLR2F):c.294-8155C>A rs74315514
NM_001301130.2(POLR2F):c.294-8211G>C rs281797260
NM_006941.3(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.3(SOX10):c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) rs397515368
NM_006941.3(SOX10):c.232C>T (p.Gln78Ter) rs1555939491
NM_006941.3(SOX10):c.429-1G>A rs1569169328
NM_006941.3(SOX10):c.487C>T (p.Gln163Ter) rs1569169289
NM_006941.3(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)
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)
NM_006941.4(SOX10):c.198_262del (p.Lys67fs)
NM_006941.4(SOX10):c.323T>C (p.Met108Thr)
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.428+1G>A
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
NM_006941.4(SOX10):c.502del (p.His168fs)
NM_006941.4(SOX10):c.529_556del (p.Arg177fs)
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.776_780del (p.Asp259fs)
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)

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