ClinVar Miner

List of variants reported as pathogenic for Alport syndrome, autosomal recessive by Centogene AG - the Rare Disease Company

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Total variants: 2
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HGVS dbSNP
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.345del rs749390823

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