ClinVar Miner

List of variants in gene PRKG2 reported as pathogenic for acromesomelic dysplasia 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006259.3(PRKG2):c.1154+1G>A rs995285513
NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter) rs1291510415
NM_006259.3(PRKG2):c.491dup (p.Asn164fs) rs2110087773

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