ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
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.1079G>A (p.Gly360Asp)
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser) rs794728045
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp) rs1688258933
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1608+1G>A
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp) rs2153502685
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
NM_000090.4(COL3A1):c.1761+5G>A rs397509372
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
NM_000090.4(COL3A1):c.1862_1869+5del
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp)
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
NM_000090.4(COL3A1):c.2229+1G>A rs1576468385
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala)
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp)
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.448-1G>T rs1688078187
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.528+5G>T
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.582+2_582+16del
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.4(COL3A1):c.898-2A>G rs1553507574
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650

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