ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance by Invitae

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Total variants: 113
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HGVS dbSNP
NC_000002.12:g.(?_189034050)_(189088792_?)dup
NC_000002.12:g.(?_189100087)_(189100159_?)del
NM_000393.3(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.3(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.3(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
NM_000393.3(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.3(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.3(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.3(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.3(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.3(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.3(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.3(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.3(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.3(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.3(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.3(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.3(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.3(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.3(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.3(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.3(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.3(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.3(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.3(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.3(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.3(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.3(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.3(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.3(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.3(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.3(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.3(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.3(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.3(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.4(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082
NM_000393.4(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.4(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017
NM_000393.4(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.4(COL5A2):c.118G>A (p.Ala40Thr)
NM_000393.4(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.4(COL5A2):c.1302G>A (p.Thr434=)
NM_000393.4(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.4(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867
NM_000393.4(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798
NM_000393.4(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.4(COL5A2):c.1455+6G>A rs113512079
NM_000393.4(COL5A2):c.1463A>G (p.His488Arg)
NM_000393.4(COL5A2):c.1563+5A>G rs777118100
NM_000393.4(COL5A2):c.1636G>A (p.Gly546Ser)
NM_000393.4(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.4(COL5A2):c.1685G>A (p.Arg562His) rs1199481029
NM_000393.4(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.4(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.4(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852
NM_000393.4(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.4(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.4(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.4(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285
NM_000393.4(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284
NM_000393.4(COL5A2):c.2092C>A (p.Pro698Thr)
NM_000393.4(COL5A2):c.2111T>C (p.Val704Ala) rs542643688
NM_000393.4(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905
NM_000393.4(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.4(COL5A2):c.2210delAinsGTCC (p.His737delinsArgPro)
NM_000393.4(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220
NM_000393.4(COL5A2):c.2291C>T (p.Pro764Leu)
NM_000393.4(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752
NM_000393.4(COL5A2):c.238C>G (p.Leu80Val) rs746454126
NM_000393.4(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.4(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.4(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.4(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.4(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.4(COL5A2):c.2855G>A (p.Arg952His) rs139264859
NM_000393.4(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.4(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.4(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.4(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570
NM_000393.4(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945
NM_000393.4(COL5A2):c.3169A>G (p.Thr1057Ala)
NM_000393.4(COL5A2):c.3196G>A (p.Glu1066Lys)
NM_000393.4(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.4(COL5A2):c.3248G>A (p.Gly1083Asp)
NM_000393.4(COL5A2):c.3311G>T (p.Gly1104Val)
NM_000393.4(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.4(COL5A2):c.3542T>G (p.Val1181Gly)
NM_000393.4(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907
NM_000393.4(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.4(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435
NM_000393.4(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.4(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.4(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803
NM_000393.4(COL5A2):c.379A>C (p.Ile127Leu)
NM_000393.4(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.4(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981
NM_000393.4(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886
NM_000393.4(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.4(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4037G>A (p.Arg1346His) rs143163673
NM_000393.4(COL5A2):c.4085A>G (p.Tyr1362Cys)
NM_000393.4(COL5A2):c.4153A>G (p.Thr1385Ala)
NM_000393.4(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.4(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794
NM_000393.4(COL5A2):c.4357C>T (p.Arg1453Trp)
NM_000393.4(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.4(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000393.4(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.4(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.4(COL5A2):c.985A>G (p.Met329Val) rs140785678

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