ClinVar Miner

List of variants in gene SOX11 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003108.4(SOX11):c.63G>T (p.Thr21=) rs139885563 0.00063
NM_003108.4(SOX11):c.597G>T (p.Val199=) rs750388803 0.00026
NM_003108.4(SOX11):c.873G>A (p.Ala291=) rs750205888 0.00004
NM_003108.4(SOX11):c.1131C>T (p.Ser377=) rs762687158 0.00002
NM_003108.4(SOX11):c.1191G>A (p.Lys397=) rs1330879266 0.00001
NM_003108.4(SOX11):c.459C>T (p.Gly153=) rs751093717 0.00001
NM_003108.4(SOX11):c.859T>A (p.Ser287Thr) rs971298974 0.00001
NM_003108.4(SOX11):c.1033_1034inv (p.Ser345Leu)
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[1] (p.347SGSS[1]) rs751221446
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003108.4(SOX11):c.1057AGC[3] (p.Ser354_Gly355insSer) rs2465088780
NM_003108.4(SOX11):c.1074C>T (p.Ala358=)
NM_003108.4(SOX11):c.155C>G (p.Pro52Arg) rs2465087392
NM_003108.4(SOX11):c.453C>T (p.Gly151=)
NM_003108.4(SOX11):c.511A>T (p.Lys171Ter) rs1553327863
NM_003108.4(SOX11):c.539C>T (p.Ala180Val) rs1035189329
NM_003108.4(SOX11):c.543C>A (p.Gly181=)
NM_003108.4(SOX11):c.675CGA[10] (p.Asp233_Glu234insAsp) rs746846042
NM_003108.4(SOX11):c.915C>T (p.Ala305=) rs771353105
NM_003108.4(SOX11):c.970_971inv (p.Pro324Gly)

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.