ClinVar Miner

List of variants in gene PAK3 reported as benign for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_002578.5(PAK3):c.*463T>C
NM_002578.5(PAK3):c.*515del rs67997504
NM_002578.5(PAK3):c.-15T>C rs758607736
NM_002578.5(PAK3):c.-492G>A
NM_002578.5(PAK3):c.-63A>G
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528
NM_002578.5(PAK3):c.918G>A (p.Lys306=)
NM_002578.5(PAK3):c.9C>T (p.Asp3=)

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