ClinVar Miner

List of variants in gene HMCN1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568

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.