List of variants in gene PRKAG2 reported as likely pathogenic 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)	rs730880978
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp)	rs878855017
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)	rs267606976
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)	rs121908990
NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu)	rs1563131309
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)	rs193922697

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