ClinVar Miner

List of variants in gene COL3A1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter)
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu)
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.3(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.3(COL3A1):c.3255+1G>C
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.3(COL3A1):c.4011+1G>T
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.691-2A>G
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser)
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val)
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs)
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607

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.