ClinVar Miner

List of variants in gene combination HCFC1, LOC130068842 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.4497+138C>T rs762653 0.15914
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01528
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00033
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00004
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.4445G>A (p.Arg1482Gln) rs2521519396
NM_005334.3(HCFC1):c.4445_4446delinsTT (p.Arg1482Leu)
NM_005334.3(HCFC1):c.4459G>A (p.Val1487Met)

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.