List of variants in gene PRKG2 studied for Acromesomelic dysplasia 4

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006259.3(PRKG2):c.1154+1G>A	rs995285513
NM_006259.3(PRKG2):c.1409T>G (p.Val470Gly)	rs2546101657
NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter)	rs1291510415
NM_006259.3(PRKG2):c.491dup (p.Asn164fs)	rs2110087773
NM_006259.3(PRKG2):c.848G>A (p.Ser283Asn)

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