ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP
NC_000007.13:g.(?_151252200)_(151575316_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)dup
NC_000007.13:g.(?_151254277)_(151254328_?)del
NC_000007.13:g.(?_151478228)_(151573715_?)dup
NC_000007.13:g.(?_151573582)_(151573715_?)dup
NM_016203.3(PRKAG2):c.-517G>T rs886062107
NM_016203.3(PRKAG2):c.-575C>T rs886062108
NM_016203.3(PRKAG2):c.-580C>T rs886062109
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT rs886062094
NM_016203.4(PRKAG2):c.*1029dup rs1554444891
NM_016203.4(PRKAG2):c.*1040del rs56898021
NM_016203.4(PRKAG2):c.*1040dup rs56898021
NM_016203.4(PRKAG2):c.*1041dup rs886062093
NM_016203.4(PRKAG2):c.*350C>A rs886062099
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.-274C>A rs886062104
NM_016203.4(PRKAG2):c.-322T>C rs142348760
NM_016203.4(PRKAG2):c.-351G>A rs886062105
NM_016203.4(PRKAG2):c.-40C>T rs148715621
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1005+6T>C rs1554464077
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly) rs760258924
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys) rs1330644534
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470
NM_016203.4(PRKAG2):c.1053_1067del (p.Leu352_Glu356del) rs1584964948
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys) rs1554459431
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val) rs1554459423
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr) rs377603922
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
NM_016203.4(PRKAG2):c.1107-3C>T
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
NM_016203.4(PRKAG2):c.114+3G>A
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=) rs397517261
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala) rs1554457901
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp) rs878855017
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val) rs730880984
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser) rs1554455087
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val) rs878855018
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs) rs1584934953
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr) rs1584934806
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His) rs144077131
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg) rs370899599
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile) rs766113743
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala) rs1060503024
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg) rs1563141020
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp) rs878855019
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu) rs1563131309
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg) rs1335765564
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe) rs1563131128
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266
NM_016203.4(PRKAG2):c.1679-1G>A
NM_016203.4(PRKAG2):c.1679-3C>T rs371543989
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met) rs540525001
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys) rs730880983
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
NM_016203.4(PRKAG2):c.186+7C>T rs886062102
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn) rs369687307
NM_016203.4(PRKAG2):c.187-3C>T
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met) rs397517269
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu) rs730880985
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile) rs1060503025
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly) rs1563659108
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys) rs730880989
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu)
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser) rs1554596200
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln) rs142808871
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val) rs760511236
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
NM_016203.4(PRKAG2):c.389C>A (p.Ser130Tyr) rs748790230
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891
NM_016203.4(PRKAG2):c.406C>G (p.Pro136Ala)
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu) rs150188173
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu) rs397517271
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro) rs1563775284
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys) rs752783859
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys) rs1586486518
NM_016203.4(PRKAG2):c.466+1G>A rs1563658309
NM_016203.4(PRKAG2):c.466+6A>G
NM_016203.4(PRKAG2):c.467-2A>T rs1554531076
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del) rs1002236859
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu) rs876657963
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln) rs765259437
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val) rs397517274
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser) rs202200501
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe) rs267601424
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser) rs753859556
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu) rs1554530705
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu) rs182084936
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr) rs1554530665
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg) rs1585679990
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly) rs730880987
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu) rs200181419
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg) rs1289045435
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu) rs766460601
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625
NM_016203.4(PRKAG2):c.685-5C>A rs779931367
NM_016203.4(PRKAG2):c.685-6C>A
NM_016203.4(PRKAG2):c.685-7C>A rs397517278
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup) rs878855020
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys) rs1271179381
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)
NM_016203.4(PRKAG2):c.755-1G>A
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs) rs1585114507
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=) rs886062100
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.945A>G (p.Val315=) rs759393540
NM_016203.4(PRKAG2):c.947-22_947-6dup
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met) rs1060503023
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val) rs730880988
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432

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