List of variants in gene combination LOC129999660, PRKAG2 reported as benign for Lethal congenital glycogen storage disease of heart

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)	rs751094298	0.00005
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	rs201735117	0.00004
NM_016203.4(PRKAG2):c.685-5del
NM_016203.4(PRKAG2):c.754+13dup	rs747490039

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