ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance by Blueprint Genetics

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Total variants: 10
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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.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016203.4(PRKAG2):c.46A>T (p.Ser16Cys) rs1444086983 0.00003
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.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_016203.4(PRKAG2):c.1052-4A>G rs977597576
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.410A>T (p.Asn137Ile) rs869025498
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499

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