ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972 0.00004
NM_000431.4(MVK):c.78+7_78+10del rs771523264 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.927C>T (p.Gly309=) rs762580578 0.00002
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.18A>G (p.Leu6=) rs1474470230 0.00001
NM_000431.4(MVK):c.216A>G (p.Thr72=) rs758432894 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.1039G>A (p.Gly347Arg) rs2136253977
NM_000431.4(MVK):c.1074G>A (p.Gln358=) rs1566153756
NM_000431.4(MVK):c.155G>T (p.Ser52Ile) rs7957619
NM_000431.4(MVK):c.29C>T (p.Ala10Val) rs1884859908
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.404C>T (p.Ser135Leu) rs104895297
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.52G>A (p.Gly18Arg)
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.774A>C (p.Pro258=)
NM_000431.4(MVK):c.787C>T (p.Pro263Ser) rs1885665220
NM_000431.4(MVK):c.936C>T (p.His312=) rs1212639017
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249

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.