ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome 1, X-linked recessive by Institute of Human Genetics,Klinikum rechts der Isar

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Total variants: 4
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HGVS dbSNP
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.645+1G>T rs1603282474

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