ClinVar Miner

List of variants in gene COL5A2 reported as benign by PreventionGenetics

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Total variants: 28
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HGVS dbSNP
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
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.1618-19C>G rs189970491
NM_000393.5(COL5A2):c.2032-39A>T rs6414122
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2661+20G>A rs79623676
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2769+19A>T rs111609220
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.337-26T>C rs56380683
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.403-16T>A rs117085226
NM_000393.5(COL5A2):c.4113+47C>T rs12693526
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.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418

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