ClinVar Miner

List of variants in gene LOC129999660, PRKAG2 studied for Lethal congenital glycogen storage disease of heart

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454 0.00051
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=) rs781038088 0.00005
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_016203.4(PRKAG2):c.754+15C>T rs760796110 0.00002
NM_016203.4(PRKAG2):c.685-12C>T rs1824697718 0.00001
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.685-7C>A rs397517278 0.00001
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val) rs745772277 0.00001
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=) rs1476121151 0.00001
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val) rs1184637689 0.00001
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=) rs777165701 0.00001
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln) rs397517281 0.00001
NM_016203.4(PRKAG2):c.754+14G>T rs1554507743 0.00001
NM_016203.4(PRKAG2):c.685-19TCC[3]
NM_016203.4(PRKAG2):c.685-19TCC[5] rs1265462032
NM_016203.4(PRKAG2):c.685-20_685-18dup
NM_016203.4(PRKAG2):c.685-3C>A
NM_016203.4(PRKAG2):c.685-5C>T rs779931367
NM_016203.4(PRKAG2):c.685-6C>A rs772481251
NM_016203.4(PRKAG2):c.685-6C>T rs772481251
NM_016203.4(PRKAG2):c.685-8C>T rs397517279
NM_016203.4(PRKAG2):c.685-9C>A
NM_016203.4(PRKAG2):c.685-9C>T rs1824696243
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val) rs1554507908
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=) rs756008063
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=) rs931540862
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.711C>G (p.Pro237=)
NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)
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.720C>G (p.Ala240=) rs752351250
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)
NM_016203.4(PRKAG2):c.754+10C>A
NM_016203.4(PRKAG2):c.754+10C>T rs1162430810
NM_016203.4(PRKAG2):c.754+11C>T
NM_016203.4(PRKAG2):c.754+13dup rs747490039
NM_016203.4(PRKAG2):c.754+17C>A rs772286759
NM_016203.4(PRKAG2):c.754+17C>T
NM_016203.4(PRKAG2):c.754+18G>A
NM_016203.4(PRKAG2):c.754+19C>G rs1824623715
NM_016203.4(PRKAG2):c.754+19_754+24del rs1287642826

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