ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
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.2423C>T (p.Pro808Leu) rs575864379
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468
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.3352C>T (p.Arg1118Cys) rs1386081744
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105

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