ClinVar Miner

List of variants in gene PRKAG2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.186+12T>C rs374155169 0.00001
NM_016203.4(PRKAG2):c.1005+8G>C rs1245068890
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=) rs748041666
NM_016203.4(PRKAG2):c.466+45239T>G
NM_016203.4(PRKAG2):c.606G>A (p.Gln202=)

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