ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance by Invitae

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Total variants: 127
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HGVS dbSNP
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NM_000090.3(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.3(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633
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.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1201G>A (p.Ala401Thr)
NM_000090.3(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.3(COL3A1):c.1336C>T (p.Arg446Cys)
NM_000090.3(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.3(COL3A1):c.1347+6T>C
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1435C>T (p.Pro479Ser)
NM_000090.3(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912
NM_000090.3(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842
NM_000090.3(COL3A1):c.1526G>A (p.Arg509His) rs568986390
NM_000090.3(COL3A1):c.1585G>A (p.Val529Ile) rs140257722
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser)
NM_000090.3(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335
NM_000090.3(COL3A1):c.1662C>T (p.Pro554=) rs373963384
NM_000090.3(COL3A1):c.1694C>A (p.Pro565His) rs144260440
NM_000090.3(COL3A1):c.1761+6T>C
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1804C>G (p.Pro602Ala)
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1869+3A>C
NM_000090.3(COL3A1):c.1885A>G (p.Lys629Glu)
NM_000090.3(COL3A1):c.1895C>T (p.Thr632Ile)
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1977+5G>C rs1553508544
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.2048G>A (p.Arg683His) rs753162027
NM_000090.3(COL3A1):c.2074C>A (p.Pro692Thr) rs1160258883
NM_000090.3(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
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.2241C>T (p.Gly747=) rs745440847
NM_000090.3(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2351C>A (p.Ala784Asp)
NM_000090.3(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.3(COL3A1):c.242T>C (p.Phe81Ser)
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) rs587779636
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2446-10T>C rs1060500195
NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2522T>C (p.Val841Ala)
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2724G>A (p.Ala908=) rs754015151
NM_000090.3(COL3A1):c.272C>T (p.Pro91Leu) rs534898281
NM_000090.3(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.3(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.3(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025
NM_000090.3(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.3(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.3(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.3(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480
NM_000090.3(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206
NM_000090.3(COL3A1):c.3100C>T (p.Arg1034Cys) rs1178112512
NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) rs180938313
NM_000090.3(COL3A1):c.3170C>G (p.Pro1057Arg)
NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.3(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516
NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3466C>T (p.His1156Tyr)
NM_000090.3(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup)
NM_000090.3(COL3A1):c.349C>A (p.Pro117Thr)
NM_000090.3(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.3(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062
NM_000090.3(COL3A1):c.3574G>A (p.Ala1192Thr)
NM_000090.3(COL3A1):c.3593G>A (p.Gly1198Asp)
NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3629G>A (p.Gly1210Asp) rs749543804
NM_000090.3(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3796A>C (p.Lys1266Gln)
NM_000090.3(COL3A1):c.3808C>A (p.Pro1270Thr)
NM_000090.3(COL3A1):c.3914C>G (p.Ala1305Gly) rs1060500197
NM_000090.3(COL3A1):c.3926A>G (p.Asn1309Ser) rs1060500201
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265
NM_000090.3(COL3A1):c.409C>A (p.Pro137Thr) rs1553506950
NM_000090.3(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.3(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4257A>G (p.Lys1419=)
NM_000090.3(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340
NM_000090.3(COL3A1):c.4301G>A (p.Arg1434His)
NM_000090.3(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.3(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.3(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090
NM_000090.3(COL3A1):c.4360C>T (p.Gln1454Ter)
NM_000090.3(COL3A1):c.4382G>T (p.Gly1461Val)
NM_000090.3(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510
NM_000090.3(COL3A1):c.469T>A (p.Ser157Thr)
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.546C>A (p.Pro182=)
NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.3(COL3A1):c.55A>G (p.Thr19Ala)
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.624A>G (p.Gln208=)
NM_000090.3(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.752A>G (p.Lys251Arg) rs151148197
NM_000090.3(COL3A1):c.838G>A (p.Ala280Thr)
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.91G>C (p.Gly31Arg) rs374537884

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