ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance by Gharavi Laboratory,Columbia University

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Total variants: 8
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HGVS dbSNP
NM_000495.5(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
NM_000495.5(COL4A5):c.4137_4139del (p.Ile1380del) rs1569507545
NM_000495.5(COL4A5):c.4880C>T (p.Ala1627Val) rs982188184
NM_000495.5(COL4A5):c.4942T>C (p.Trp1648Arg) rs1569509354
NM_000495.5(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208

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