ClinVar Miner

List of variants in gene COL4A5 reported as pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 4
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NM_000495.5(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.5(COL4A5):c.3588A>G (p.Gly1196=) rs1556445736
NM_000495.5(COL4A5):c.3614G>T (p.Gly1205Val) rs1556446493
NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA rs1556411578

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