ClinVar Miner

List of variants in gene PAK3 reported as benign for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002578.5(PAK3):c.431-26A>G rs16986385 0.16664
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00992
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_002578.5(PAK3):c.*463T>C rs761662392 0.00134
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179 0.00061
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_002578.5(PAK3):c.-63A>G rs192192146 0.00023
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810 0.00013
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528 0.00008
NM_002578.5(PAK3):c.-15T>C rs758607736 0.00005
NM_002578.5(PAK3):c.9C>T (p.Asp3=) rs745645606 0.00005
NM_002578.5(PAK3):c.*515del

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