ClinVar Miner

List of variants in gene COL3A1 reported as pathogenic for not provided

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1106G>A (p.Gly369Glu) rs1057521930
NM_000090.4(COL3A1):c.1177G>C (p.Gly393Arg) rs2153502348
NM_000090.4(COL3A1):c.1222G>A (p.Gly408Arg) rs1064794552
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.4(COL3A1):c.1294-1G>A rs1060500204
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val) rs1688274077
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val) rs587779691
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.4(COL3A1):c.1859dup (p.Gly621fs) rs1576467144
NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val) rs587779706
NM_000090.4(COL3A1):c.2102del (p.Pro701fs) rs1559058551
NM_000090.4(COL3A1):c.2123G>C (p.Gly708Ala) rs111929073
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.4(COL3A1):c.2221G>T (p.Gly741Cys) rs587779685
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp) rs2153503368
NM_000090.4(COL3A1):c.2500G>A (p.Gly834Ser)
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.4(COL3A1):c.2607+1G>T
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
NM_000090.4(COL3A1):c.2716G>A (p.Gly906Ser) rs1688530172
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.4(COL3A1):c.3248G>A (p.Gly1083Asp)
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.3379C>T (p.Gln1127Ter)
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3499G>A (p.Gly1167Ser) rs587779609
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.3527G>T (p.Gly1176Val) rs1553509726
NM_000090.4(COL3A1):c.3544G>C (p.Gly1182Arg) rs587779683
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.4134C>G (p.Tyr1378Ter) rs2153504329
NM_000090.4(COL3A1):c.4180_4189del (p.Gly1394fs) rs794728059
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.536dup (p.Gly180fs) rs1553507180
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.753del (p.Gly252fs) rs2153501973
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.4(COL3A1):c.897+1G>A rs1057518372
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.4(COL3A1):c.997-1G>A rs587779687
NM_000090.4(COL3A1):c.997-1G>C rs587779687

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