ClinVar Miner

List of variants in gene PAK2 studied for Knobloch syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002577.4(PAK2):c.1273G>A (p.Asp425Asn)	rs2474001104
NM_002577.4(PAK2):c.1309G>A (p.Val437Ile)
NM_002577.4(PAK2):c.1476A>C (p.Lys492Asn)
NM_002577.4(PAK2):c.836A>C (p.Gln279Pro)

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