ClinVar Miner

List of variants in gene MVK reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) rs104895373
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319

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.