ClinVar Miner

List of variants in gene HCFC1 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601
NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr) rs1557113917
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) rs782370052
NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe) rs1557112939
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) rs797044886

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.