ClinVar Miner

List of variants in gene COL3A1 reported as likely benign for Thoracic aortic aneurysm and aortic dissection

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Total variants: 39
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HGVS dbSNP
NM_000090.3(COL3A1):c.1050+6C>T rs528634384
NM_000090.3(COL3A1):c.1050+7_1050+8del rs759415640
NM_000090.3(COL3A1):c.1128C>T (p.His376=) rs771015742
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.120G>A (p.Ala40=) rs138115610
NM_000090.3(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1870-13_1870-11del rs1312775368
NM_000090.3(COL3A1):c.1924-4C>T rs755814664
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2043T>C (p.Gly681=) rs768133491
NM_000090.3(COL3A1):c.2242_2244delinsAGC (p.Gly748Ser) rs794728037
NM_000090.3(COL3A1):c.2277C>T (p.Gly759=) rs763343051
NM_000090.3(COL3A1):c.2394T>C (p.Gly798=) rs886038982
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2568C>T (p.Pro856=) rs767262368
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.2824-7G>A rs1559060817
NM_000090.3(COL3A1):c.3040-12T>C rs757034411
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3411C>T (p.Gly1137=) rs776330422
NM_000090.3(COL3A1):c.3418-12A>G rs373367218
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3630T>G (p.Gly1210=) rs771034601
NM_000090.3(COL3A1):c.3693C>A (p.Thr1231=) rs368556405
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3816C>T (p.Leu1272=) rs754340753
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4224C>T (p.Phe1408=) rs549672243
NM_000090.3(COL3A1):c.799-6del rs767927599
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.853-4C>T rs1559055041
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.911C>A (p.Ala304Asp) rs730880061

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