ClinVar Miner

List of variants in gene TRPV5 reported by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019841.7(TRPV5):c.33C>T (p.Pro11=) rs377258108 0.00016
NM_019841.7(TRPV5):c.1035G>A (p.Thr345=) rs202171798 0.00013
NM_019841.7(TRPV5):c.470G>A (p.Arg157His) rs387907544 0.00009
NM_019841.7(TRPV5):c.1829G>A (p.Arg610His) rs387907543 0.00002
NM_019841.7(TRPV5):c.535G>A (p.Val179Met) rs373756563 0.00002
NM_019841.7(TRPV5):c.966C>T (p.Asn322=) rs387907542 0.00001
NM_019841.7(TRPV5):c.1968G>A (p.Lys656=) rs387907541

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.