ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017 0.00001
NM_000090.4(COL3A1):c.2464G>A (p.Gly822Ser) rs794728051 0.00001
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
NM_000090.3(COL3A1):c.798_799delAG
NM_000090.4(COL3A1):c.1042G>A (p.Gly348Ser)
NM_000090.4(COL3A1):c.1051-1G>C rs866316633
NM_000090.4(COL3A1):c.1061_1062insTA (p.Pro355fs) rs1553507793
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
NM_000090.4(COL3A1):c.1223G>A (p.Gly408Glu) rs794728043
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1484G>C (p.Gly495Ala) rs1057524653
NM_000090.4(COL3A1):c.1673_1722del (p.Gly558fs) rs1553508231
NM_000090.4(COL3A1):c.1978-1G>C rs1064796733
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.4(COL3A1):c.2132G>T (p.Gly711Val) rs794728049
NM_000090.4(COL3A1):c.2582G>A (p.Gly861Asp) rs1064796468
NM_000090.4(COL3A1):c.2607+5G>T rs587779457
NM_000090.4(COL3A1):c.2608-2A>C rs1057523593
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.4(COL3A1):c.282+1G>C rs1131692024
NM_000090.4(COL3A1):c.2823+1G>A rs587779424
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.4(COL3A1):c.2996G>T (p.Gly999Val) rs1085307964
NM_000090.4(COL3A1):c.3077G>T (p.Gly1026Val) rs1553509404
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
NM_000090.4(COL3A1):c.3329G>A (p.Gly1110Glu) rs794728055
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.4(COL3A1):c.4175T>G (p.Leu1392Arg) rs1553509934
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del) rs1688079577
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser) rs2153501643
NM_000090.4(COL3A1):c.528+5G>C rs794728038
NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser) rs587779507
NM_000090.4(COL3A1):c.601G>T (p.Gly201Ter) rs587779436
NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter) rs746358771
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp) rs587779588

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