ClinVar Miner

List of variants in gene COL3A1 reported by OMIM

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Total variants: 38
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HGVS dbSNP
COL3A1, GLY373ARG
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1282C>T (p.Arg428Ter)
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.145C>G (p.Pro49Ala) rs1234344050
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1761+5G>T rs397509372
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.1869+5G>A rs397509376
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2057del (p.Pro686fs) rs1559058482
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.3(COL3A1):c.2410G>A (p.Gly804Ser) rs121912920
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.3(COL3A1):c.2553+5G>T rs397509371
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) rs397509373
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.3(COL3A1):c.3093+1G>A rs869312034
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.3(COL3A1):c.479dup (p.Lys161fs) rs397509377
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+6T>C rs397509375
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557

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