ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 58
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HGVS dbSNP
NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.3(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.3(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000090.3(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.3(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) rs770168441
NM_000090.3(COL3A1):c.1585G>A (p.Val529Ile) rs140257722
NM_000090.3(COL3A1):c.1657C>T (p.Pro553Ser) rs752163277
NM_000090.3(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
NM_000090.3(COL3A1):c.1813C>G (p.Gln605Glu) rs764299277
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774
NM_000090.3(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.3(COL3A1):c.2022+4G>A rs886038865
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2519G>T (p.Gly840Val) rs886038895
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2773G>A (p.Asp925Asn) rs929526823
NM_000090.3(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.3001C>T (p.Pro1001Ser) rs777180110
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3205C>T (p.Pro1069Ser) rs200122671
NM_000090.3(COL3A1):c.3217G>A (p.Ala1073Thr) rs1553509489
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3793C>A (p.Leu1265Met) rs200052168
NM_000090.3(COL3A1):c.3806A>G (p.His1269Arg) rs751092650
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.4003G>A (p.Gly1335Ser) rs751807135
NM_000090.3(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610
NM_000090.3(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204
NM_000090.3(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731
NM_000090.3(COL3A1):c.4340A>G (p.Tyr1447Cys) rs1407784923
NM_000090.3(COL3A1):c.4378G>A (p.Val1460Ile) rs561556753
NM_000090.3(COL3A1):c.4394T>G (p.Phe1465Cys) rs1553510018
NM_000090.3(COL3A1):c.508G>A (p.Ala170Thr) rs374476865
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.52C>T (p.Pro18Ser) rs886038951
NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.897+4A>G rs886039191
NM_000090.3(COL3A1):c.898-5T>C rs535434618

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