List of variants in gene combination LOC129999660, PRKAG2 reported as uncertain significance 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.685-1G>A	rs1824685527	0.00001
NM_016203.4(PRKAG2):c.685-3C>T	rs1057520353	0.00001
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)	rs745772277	0.00001
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)	rs397517281	0.00001
NM_016203.4(PRKAG2):c.685-3C>A
NM_016203.4(PRKAG2):c.685-6C>A	rs772481251
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)	rs1554507908
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)	rs878855020
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)	rs1338523761
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)	rs201240745
NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)	rs1183522324
NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys)	rs1271179381
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)	rs1824657994
NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg)	rs765544988
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)	rs543247293
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)	rs2151325092
NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys)	rs397517281
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)	rs1824644597
NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)
NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)	rs1585369730
NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)

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