ClinVar Miner

List of variants in gene combination POLR2F, SOX10 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.4(SOX10):c.113del (p.Gly38fs) rs397515387
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa) rs397515368
NM_006941.4(SOX10):c.219_428+43del rs1555939381
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.2T>G (p.Met1Arg) rs397515457
NM_006941.4(SOX10):c.404G>C (p.Ser135Thr) rs74315515
NM_006941.4(SOX10):c.429-1112_697+396del
NM_006941.4(SOX10):c.470C>T (p.Ala157Val) rs121909117
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) rs397515366
NM_006941.4(SOX10):c.506del (p.Pro169fs) rs397515369
NM_006941.4(SOX10):c.521A>C (p.Gln174Pro) rs267607081
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) rs74315514
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.4(SOX10):c.698-2A>C rs397515370
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.743_744del (p.Glu248fs) rs397515386
NM_006941.4(SOX10):c.748C>T (p.Gln250Ter) rs74315521
NM_006941.4(SOX10):c.752C>A (p.Ser251Ter) rs74315518
NM_006941.4(SOX10):c.797del (p.Gly266fs) rs397515371
NM_006941.4(SOX10):c.915del (p.His306fs) rs397515372
NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter) rs74315516

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.