ClinVar Miner

List of variants in gene PRKAG2 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys) rs2076650862
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364

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