ClinVar Miner

List of variants in gene COL3A1 reported by Color

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Gene type:
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Total variants: 96
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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.1094C>G (p.Pro365Arg) rs1464219199
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.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
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.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1348-13T>C rs753505868
NM_000090.3(COL3A1):c.1531G>A (p.Ala511Thr) rs926106259
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.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1777A>G (p.Asn593Asp) rs1435010100
NM_000090.3(COL3A1):c.1787G>A (p.Arg596Gln) rs774632188
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1870-13_1870-11del rs1312775368
NM_000090.3(COL3A1):c.1924-4C>T rs755814664
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.2043T>C (p.Gly681=) rs768133491
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) rs541557925
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2277C>T (p.Gly759=) rs763343051
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2394T>C (p.Gly798=) rs886038982
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2530C>G (p.Pro844Ala) rs780490668
NM_000090.3(COL3A1):c.2568C>T (p.Pro856=) rs767262368
NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.2723C>G (p.Ala908Gly) rs144036995
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2823+5G>C rs1559060755
NM_000090.3(COL3A1):c.2824-7G>A rs1559060817
NM_000090.3(COL3A1):c.290G>T (p.Arg97Leu) rs1197947308
NM_000090.3(COL3A1):c.2917C>T (p.Pro973Ser) rs1559060895
NM_000090.3(COL3A1):c.3035G>A (p.Arg1012Lys) rs865829661
NM_000090.3(COL3A1):c.3040-12T>C rs757034411
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3092A>C (p.Lys1031Thr) rs749725146
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3202-14delT rs767971610
NM_000090.3(COL3A1):c.320C>G (p.Pro107Arg) rs1559052813
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3411C>T (p.Gly1137=) rs776330422
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3418-12A>G rs373367218
NM_000090.3(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3630T>G (p.Gly1210=) rs771034601
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3693C>A (p.Thr1231=) rs368556405
NM_000090.3(COL3A1):c.3764G>A (p.Arg1255His) rs368119434
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln)
NM_000090.3(COL3A1):c.3816C>T (p.Leu1272=) rs754340753
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
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.4220A>C (p.Lys1407Thr) rs747651283
NM_000090.3(COL3A1):c.4224C>T (p.Phe1408=) rs549672243
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.713G>A (p.Arg238Gln) rs760324242
NM_000090.3(COL3A1):c.799-6delT rs767927599
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.853-4C>T rs1559055041
NM_000090.3(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.902C>T (p.Pro301Leu) rs1273313377

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