ClinVar Miner

List of variants in gene COL3A1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2337+23T>A rs2271682 0.71236
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000090.4(COL3A1):c.3824-31C>A rs10204508 0.23605
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_000090.4(COL3A1):c.2608-50C>T rs3765161 0.12570
NM_000090.4(COL3A1):c.3202-36C>T rs10194304 0.09128
NM_000090.4(COL3A1):c.3202-40G>A rs10194475 0.09121
NM_000090.4(COL3A1):c.1815+18A>G rs28413125 0.08030
NM_000090.4(COL3A1):c.4011+34A>G rs41265549 0.02376
NM_000090.4(COL3A1):c.2661+22T>A rs28763878 0.02332
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000090.4(COL3A1):c.3256-28G>A rs200449080 0.00608
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.283-45G>T rs150919697 0.00274
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000090.4(COL3A1):c.1050+43G>T rs28763876 0.00175
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) rs146837092 0.00012
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864 0.00011
NM_000090.4(COL3A1):c.1977+10G>A rs768976215 0.00008
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=) rs140229974 0.00004
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=) rs749357239 0.00004
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 0.00003
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) rs759650260 0.00002
NM_000090.4(COL3A1):c.432C>T (p.Cys144=) rs539430522 0.00002
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) rs376207711 0.00002
NM_000090.4(COL3A1):c.582+12C>T rs41272799 0.00002
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys) rs138818489 0.00002
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633 0.00001
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser) rs776430998 0.00001
NM_000090.4(COL3A1):c.1758T>C (p.Asn586=) rs756227982 0.00001
NM_000090.4(COL3A1):c.1869+6T>G rs730880063 0.00001
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 0.00001
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) rs1431359737 0.00001
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile) rs1688692242 0.00001
NM_000090.4(COL3A1):c.80-8T>C rs1241543816 0.00001
NM_000090.4(COL3A1):c.126A>C (p.Arg42Ser)
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1392T>C (p.Asp464=)
NM_000090.4(COL3A1):c.1609-5_1615del
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1817G>A (p.Gly606Asp)
NM_000090.4(COL3A1):c.1869+1G>C rs587779600
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2057C>A (p.Pro686His)
NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs)
NM_000090.4(COL3A1):c.235A>G (p.Ile79Val) rs779214140
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=) rs1377418572
NM_000090.4(COL3A1):c.3144T>A (p.His1048Gln)
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) rs1576473569
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) rs886038983
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.4(COL3A1):c.4352G>A (p.Gly1451Asp)
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser) rs1204385773

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