ClinVar Miner

List of variants in gene COL1A1 reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys) rs1341595487 0.00003
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580 0.00001
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser) rs72651647
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3100-6C>A
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3207+3A>G rs1906755287
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) rs1906659084
NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val) rs1567753448
NM_000088.4(COL1A1):c.3649del (p.Arg1217fs) rs2144537122
NM_000088.4(COL1A1):c.370-2A>T
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter) rs1203106659
NM_000088.4(COL1A1):c.4339del (p.Val1447fs) rs1567751388
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val) rs1907723511

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.