ClinVar Miner

List of variants in gene COL5A2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 108
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HGVS dbSNP
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.3(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.3(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.3(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.*1076G>A rs114123906
NM_000393.4(COL5A2):c.*1165G>A rs13914
NM_000393.4(COL5A2):c.*126A>G rs755412373
NM_000393.4(COL5A2):c.*1379A>G rs114330868
NM_000393.4(COL5A2):c.*1400A>G rs12886
NM_000393.4(COL5A2):c.*1402T>G rs11186
NM_000393.4(COL5A2):c.*1460A>T rs886055349
NM_000393.4(COL5A2):c.*1465G>T rs886055348
NM_000393.4(COL5A2):c.*1668C>G rs772852972
NM_000393.4(COL5A2):c.*1669G>A rs76151083
NM_000393.4(COL5A2):c.*1764G>T rs554165132
NM_000393.4(COL5A2):c.*1852T>C rs116255986
NM_000393.4(COL5A2):c.*1894C>A rs886055347
NM_000393.4(COL5A2):c.*1904C>T rs75096234
NM_000393.4(COL5A2):c.*1960A>G rs76482660
NM_000393.4(COL5A2):c.*1961T>C rs886055346
NM_000393.4(COL5A2):c.*1970T>G rs548360577
NM_000393.4(COL5A2):c.*2062G>A rs77821675
NM_000393.4(COL5A2):c.*211T>A rs776264833
NM_000393.4(COL5A2):c.*2131T>A rs113513554
NM_000393.4(COL5A2):c.*298G>A rs7586
NM_000393.4(COL5A2):c.*391A>G rs143552248
NM_000393.4(COL5A2):c.*392T>C rs1131518
NM_000393.4(COL5A2):c.*401A>C rs886055352
NM_000393.4(COL5A2):c.*423C>T rs77413180
NM_000393.4(COL5A2):c.*446G>A rs570467727
NM_000393.4(COL5A2):c.*46C>A rs112739705
NM_000393.4(COL5A2):c.*515C>T rs113311693
NM_000393.4(COL5A2):c.*561T>C rs564981830
NM_000393.4(COL5A2):c.*589_*590delAA rs200554257
NM_000393.4(COL5A2):c.*590dupA rs200554257
NM_000393.4(COL5A2):c.*639G>A rs73981487
NM_000393.4(COL5A2):c.*696_*697delTA rs886055351
NM_000393.4(COL5A2):c.*716A>G rs886055350
NM_000393.4(COL5A2):c.*798A>G rs116775405
NM_000393.4(COL5A2):c.*848T>C rs72902303
NM_000393.4(COL5A2):c.*904A>C rs778818824
NM_000393.4(COL5A2):c.-176T>A rs570350400
NM_000393.4(COL5A2):c.-34C>T rs114102476
NM_000393.4(COL5A2):c.-50C>T rs183260194
NM_000393.4(COL5A2):c.1006-9C>T rs73978832
NM_000393.4(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.4(COL5A2):c.1104+15T>C rs75486409
NM_000393.4(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.4(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.1923+8T>C rs191193125
NM_000393.4(COL5A2):c.2032-7G>A rs141571092
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.2499+10A>G rs886055356
NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.4(COL5A2):c.2554-14A>G rs142429770
NM_000393.4(COL5A2):c.2770-15delT rs577038385
NM_000393.4(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.4(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.4(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.4(COL5A2):c.3040-8T>C rs886055355
NM_000393.4(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.4(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803
NM_000393.4(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.3633+12A>G rs886055353
NM_000393.4(COL5A2):c.3633+14G>T rs776087725
NM_000393.4(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.4(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.4(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.4(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.4(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.4(COL5A2):c.568-10G>A rs58106884
NM_000393.4(COL5A2):c.744+7G>A rs774993105
NM_000393.4(COL5A2):c.799-7C>A rs879227018
NM_000393.4(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.4(COL5A2):c.852+14C>T rs56310996
NM_000393.4(COL5A2):c.906+10A>T rs776578452
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.4(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.4(COL5A2):c.98-12T>G rs117917418
NM_000393.5(COL5A2):c.3363+2T>C

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