ClinVar Miner

List of variants reported as pathogenic for Mental retardation 30, X-linked by OMIM

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Total variants: 5
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NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) rs121434613
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) rs121434611
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) rs121434614
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) rs121434612
NM_002578.5(PAK3):c.276+4A>G rs1569398769

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