ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr)	rs1603377813
NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg)	rs1603378331
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter)	rs780775497
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)

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