ClinVar Miner

List of variants reported as pathogenic for Renal hypodysplasia/aplasia 1 by OMIM

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Total variants: 3
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HGVS dbSNP
NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg) rs374664941
NM_003638.3(ITGA8):c.1622_1626del (p.Glu541fs) rs587777280
NM_003638.3(ITGA8):c.2982+2T>C rs587777279

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