ClinVar Miner

List of variants in gene COL6A1 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.2(COL6A1):c.1056+2T>C rs797044456
NM_001848.2(COL6A1):c.1465del (p.Ala489fs) rs797044458
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter) rs121912937
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.428+1G>A rs1569517717
NM_001848.2(COL6A1):c.805-572_903+5delinsTCCCTCCCCATTTCC
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.857del (p.Pro286fs) rs797044457
NM_001848.2(COL6A1):c.868G>C (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.931-1G>A

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.