ClinVar Miner

List of variants in gene COL4A5 reported as pathogenic by Genetic Diagnostic Laboratory,University of Szeged

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Total variants: 7
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HGVS dbSNP
NM_000495.5(COL4A5):c.1010G>T (p.Gly337Val) rs869025334
NM_000495.5(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_000495.5(COL4A5):c.1780-1G>T rs104886338
NM_000495.5(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.5(COL4A5):c.2395+1G>A rs869025331
NM_000495.5(COL4A5):c.2741G>A (p.Gly914Asp) rs869025332
NM_000495.5(COL4A5):c.82G>T (p.Ala28Ser) rs869025333

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