ClinVar Miner

List of variants in gene COL3A1, LOC126806446 studied for Ehlers-Danlos syndrome, vascular type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=) rs148901664 0.00006
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=) rs886038982 0.00002
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val) rs370292679 0.00001
NM_000090.4(COL3A1):c.1701_2392-342del
NM_000090.4(COL3A1):c.2284-108_3490del
NM_000090.4(COL3A1):c.2284-667_3256-44del
NM_000090.4(COL3A1):c.2338-31_3040-194del
NM_000090.4(COL3A1):c.2338-7T>C rs1688463217
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp) rs370292679
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val) rs587779564
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=) rs1207914999
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser) rs749803388
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr) rs1179918994
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) rs200452382
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His) rs1332613006
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)
NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)
NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp)
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
NM_000090.4(COL3A1):c.2391+12del
NM_000090.4(COL3A1):c.2391+16A>G
NM_000090.4(COL3A1):c.2391+18T>C
NM_000090.4(COL3A1):c.2392-16A>C rs2153503297
NM_000090.4(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.4(COL3A1):c.2392-4T>A
NM_000090.4(COL3A1):c.2392-5T>A
NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp) rs2153503300
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=) rs1338674766
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp) rs587779689
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=) rs2153503304
NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg)
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) rs1688486002
NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val)
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr) rs1688486281
NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)
NM_000090.4(COL3A1):c.2445+14T>G
NM_000090.4(COL3A1):c.2445+15_2445+18del
NM_000090.4(COL3A1):c.2445+19A>G rs776819930
NM_000090.4(COL3A1):c.2445+2dup rs587779572
NM_000090.4(COL3A1):c.2445+5G>A rs587779636

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.