ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic by Genetics Department, Polish Mother's Memorial Hospital Research Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1002+5G>T rs1907566530
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala) rs1907512918
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala) rs1598288656
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala) rs1598288634
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala) rs72654797
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val) rs1598300054
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813

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.