ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_000393.5(COL5A2):c.*1076G>A rs114123906
NM_000393.5(COL5A2):c.*1165G>A rs13914
NM_000393.5(COL5A2):c.*1379A>G rs114330868
NM_000393.5(COL5A2):c.*1400A>G rs12886
NM_000393.5(COL5A2):c.*1402T>G rs11186
NM_000393.5(COL5A2):c.*1669G>A rs76151083
NM_000393.5(COL5A2):c.*1852T>C rs116255986
NM_000393.5(COL5A2):c.*1904C>T rs75096234
NM_000393.5(COL5A2):c.*1960A>G rs76482660
NM_000393.5(COL5A2):c.*2062G>A rs77821675
NM_000393.5(COL5A2):c.*2131T>A rs113513554
NM_000393.5(COL5A2):c.*298G>A rs7586
NM_000393.5(COL5A2):c.*391A>G rs143552248
NM_000393.5(COL5A2):c.*392T>C rs1131518
NM_000393.5(COL5A2):c.*423C>T rs77413180
NM_000393.5(COL5A2):c.*446G>A rs570467727
NM_000393.5(COL5A2):c.*46C>A rs112739705
NM_000393.5(COL5A2):c.*515C>T rs113311693
NM_000393.5(COL5A2):c.*561T>C rs564981830
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.*639G>A rs73981487
NM_000393.5(COL5A2):c.*798A>G rs116775405
NM_000393.5(COL5A2):c.-34C>T rs114102476
NM_000393.5(COL5A2):c.-50C>T rs183260194
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418

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