ClinVar Miner

List of variants in gene COL5A2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 41
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HGVS dbSNP
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.1264A>G (p.Ile422Val) rs1391129049
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237
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.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
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.2831G>A (p.Arg944His) rs761988412
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.322+157C>T rs4128538
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3309+6G>T rs775681859
NM_000393.5(COL5A2):c.3309+7A>G rs1553513652
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895
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.370-16C>T rs148220961
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.906+10A>T rs776578452

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