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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)	rs200474454	0.00021
NM_002578.5(PAK3):c.-274G>C	rs765534627	0.00010
NM_001128166.3(PAK3):c.-30G>C	rs935906281	0.00002
NM_002578.5(PAK3):c.-160G>A	rs756835310	0.00002
NM_002578.5(PAK3):c.447A>T (p.Gly149=)	rs1429686948	0.00001
NM_002578.5(PAK3):c.862A>G (p.Ile288Val)	rs2094566106	0.00001
NM_002578.5(PAK3):c.*249G>T	rs1052291383
NM_002578.5(PAK3):c.*452del	rs1057515732
NM_002578.5(PAK3):c.*83C>T	rs1057515731
NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp)	rs1249190198
NM_002578.5(PAK3):c.1216T>C (p.Phe406Leu)
NM_002578.5(PAK3):c.1448A>G (p.Gln483Arg)
NM_002578.5(PAK3):c.233A>G (p.His78Arg)
NM_002578.5(PAK3):c.25G>A (p.Glu9Lys)
NM_002578.5(PAK3):c.490C>T (p.Pro164Ser)
NM_002578.5(PAK3):c.492T>A (p.Pro164=)	rs1057515729
NM_002578.5(PAK3):c.534AGA[4] (p.Glu182del)	rs749370794
NM_002578.5(PAK3):c.601-3dup	rs768803846
NM_002578.5(PAK3):c.786G>A (p.Gly262=)	rs886044251
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn)	rs1603373843

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