ClinVar Miner

List of variants reported as pathogenic for Alport syndrome 1, X-linked recessive by Genetic Diagnostic Laboratory,University of Szeged

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Total variants: 7
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NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val) rs869025334
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.2395+1G>A rs869025331
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp) rs869025332
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser) rs869025333

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