ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP
NM_000090.3(COL3A1):c.1061_1062insTA (p.Pro355Asnfs) rs1553507793
NM_000090.3(COL3A1):c.1223G>A (p.Gly408Glu) rs794728043
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1484G>C (p.Gly495Ala) rs1057524653
NM_000090.3(COL3A1):c.1673_1722del50 (p.Gly558Alafs) rs1553508231
NM_000090.3(COL3A1):c.1978-1G>C rs1064796733
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.2123G>C (p.Gly708Ala) rs111929073
NM_000090.3(COL3A1):c.2132G>T (p.Gly711Val) rs794728049
NM_000090.3(COL3A1):c.2464G>A (p.Gly822Ser) rs794728051
NM_000090.3(COL3A1):c.2582G>A (p.Gly861Asp) rs1064796468
NM_000090.3(COL3A1):c.2608-2A>C rs1057523593
NM_000090.3(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.282+1G>C rs1131692024
NM_000090.3(COL3A1):c.2996G>T (p.Gly999Val) rs1085307964
NM_000090.3(COL3A1):c.3077G>T (p.Gly1026Val) rs1553509404
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG (p.Gly1086Alafs) rs1553509575
NM_000090.3(COL3A1):c.3329G>A (p.Gly1110Glu) rs794728055
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.4175T>G (p.Leu1392Arg) rs1553509934
NM_000090.3(COL3A1):c.528+5G>C rs794728038
NM_000090.3(COL3A1):c.565G>A (p.Gly189Ser) rs587779507
NM_000090.3(COL3A1):c.622C>T (p.Gln208Ter)
NM_000090.3(COL3A1):c.798_799delAG
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588

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