List of variants in gene PRKAG2 studied for Primary familial hypertrophic cardiomyopathy

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)	rs147349145	0.00012
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)	rs397517264	0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)	rs186114650	0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)	rs397517267	0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)	rs1041124171	0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	rs121908987	0.00001
NM_016203.4(PRKAG2):c.1106+15T>G	rs193922696
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)	rs762111172
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)	rs61744760
NM_016203.4(PRKAG2):c.410A>T (p.Asn137Ile)	rs869025498
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu)	rs869025499

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