ClinVar Miner

List of variants in gene PAK3 studied for Mental retardation 30, X-linked

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Total variants: 32
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HGVS dbSNP
NM_002578.5(PAK3):c.*249G>T
NM_002578.5(PAK3):c.*463T>C
NM_002578.5(PAK3):c.*83C>T rs1057515731
NM_002578.5(PAK3):c.-15T>C rs758607736
NM_002578.5(PAK3):c.-160G>A
NM_002578.5(PAK3):c.-274G>C
NM_002578.5(PAK3):c.-470G>T
NM_002578.5(PAK3):c.-473G>C
NM_002578.5(PAK3):c.-492G>A
NM_002578.5(PAK3):c.-63A>G
NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) rs121434613
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr) rs1603377813
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) rs121434611
NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg) rs1603378331
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) rs121434614
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) rs121434612
NM_002578.5(PAK3):c.276+4A>G rs1569398769
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter) rs780775497
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002578.5(PAK3):c.492T>A (p.Pro164=) rs1057515729
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002578.5(PAK3):c.534_536AGA[4] (p.Glu182del) rs749370794
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528
NM_002578.5(PAK3):c.862A>G (p.Ile288Val)
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn) rs1603373843
NM_002578.5(PAK3):c.9C>T (p.Asp3=)

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