ClinVar Miner

List of variants in gene PRKAG2 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_016203.4(PRKAG2):c.*1021del rs11329945
NM_016203.4(PRKAG2):c.1005+8G>C rs1245068890
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=) rs770773856
NM_016203.4(PRKAG2):c.1051+10A>G rs773560289
NM_016203.4(PRKAG2):c.1052-4A>G rs977597576
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=) rs397517260
NM_016203.4(PRKAG2):c.108C>T (p.His36=) rs753210415
NM_016203.4(PRKAG2):c.1106+9G>A
NM_016203.4(PRKAG2):c.1106+9_1106+11del rs759705299
NM_016203.4(PRKAG2):c.1107-7C>T
NM_016203.4(PRKAG2):c.1113C>T (p.Phe371=)
NM_016203.4(PRKAG2):c.1158C>T (p.Pro386=) rs747247488
NM_016203.4(PRKAG2):c.117C>T (p.Asp39=)
NM_016203.4(PRKAG2):c.1191T>C (p.Tyr397=) rs749218393
NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=) rs779897567
NM_016203.4(PRKAG2):c.1215C>T (p.Leu405=) rs1584956582
NM_016203.4(PRKAG2):c.1233+9T>C rs780770792
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115
NM_016203.4(PRKAG2):c.1234-7C>T rs1456377814
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=) rs753059650
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=) rs781153622
NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=) rs755421350
NM_016203.4(PRKAG2):c.1400-8A>G rs1488159582
NM_016203.4(PRKAG2):c.1422C>T (p.Ser474=) rs1584941245
NM_016203.4(PRKAG2):c.1437+7A>G
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=) rs768299371
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=) rs367768776
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg) rs781741013
NM_016203.4(PRKAG2):c.1509G>A (p.Gln503=)
NM_016203.4(PRKAG2):c.156G>A (p.Leu52=)
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956
NM_016203.4(PRKAG2):c.1596G>C (p.Leu532=)
NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=)
NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=) rs1196648905
NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)
NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=)
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)
NM_016203.4(PRKAG2):c.1668C>A (p.Leu556=)
NM_016203.4(PRKAG2):c.1678+10T>C rs369965019
NM_016203.4(PRKAG2):c.171G>A (p.Lys57=)
NM_016203.4(PRKAG2):c.186+7C>T rs886062102
NM_016203.4(PRKAG2):c.187-11dup rs1304458769
NM_016203.4(PRKAG2):c.187-4G>A rs752294420
NM_016203.4(PRKAG2):c.187-8T>C rs1220186527
NM_016203.4(PRKAG2):c.204C>T (p.Gly68=) rs761181432
NM_016203.4(PRKAG2):c.207G>T (p.Pro69=) rs144384573
NM_016203.4(PRKAG2):c.222A>G (p.Lys74=) rs1265668637
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=) rs774628602
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816
NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys) rs778331706
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=) rs147365679
NM_016203.4(PRKAG2):c.351C>T (p.Ser117=) rs1048504272
NM_016203.4(PRKAG2):c.357A>G (p.Arg119=) rs1586487326
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=) rs1057520352
NM_016203.4(PRKAG2):c.405C>T (p.Ser135=)
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900
NM_016203.4(PRKAG2):c.435G>C (p.Gly145=) rs1432408242
NM_016203.4(PRKAG2):c.466+8C>T rs958349957
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser) rs727504512
NM_016203.4(PRKAG2):c.477C>T (p.Leu159=) rs1585681762
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=) rs556852534
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=) rs1022959045
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866
NM_016203.4(PRKAG2):c.522G>A (p.Thr174=)
NM_016203.4(PRKAG2):c.546C>T (p.His182=)
NM_016203.4(PRKAG2):c.556C>A (p.Arg186=) rs200392688
NM_016203.4(PRKAG2):c.570C>T (p.Arg190=) rs141191531
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=) rs756215060
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=) rs587781126
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=) rs587781126
NM_016203.4(PRKAG2):c.609G>A (p.Arg203=)
NM_016203.4(PRKAG2):c.618G>A (p.Pro206=)
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=) rs149820808
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=) rs774279454
NM_016203.4(PRKAG2):c.660G>T (p.Pro220=)
NM_016203.4(PRKAG2):c.685-5C>T
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=) rs756008063
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=) rs1476121151
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=) rs777165701
NM_016203.4(PRKAG2):c.754+10C>T rs1162430810
NM_016203.4(PRKAG2):c.798G>A (p.Arg266=)
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=) rs727504618
NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)
NM_016203.4(PRKAG2):c.864+10C>G rs1554480836
NM_016203.4(PRKAG2):c.865-7T>G rs1433226385
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) rs730880975
NM_016203.4(PRKAG2):c.876C>G (p.Ala292=)
NM_016203.4(PRKAG2):c.87G>A (p.Lys29=)
NM_016203.4(PRKAG2):c.885T>A (p.Ala295=)
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) rs756923555
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=) rs201876556
NM_016203.4(PRKAG2):c.909A>C (p.Ala303=)
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.946+3A>G rs376173303
NM_016203.4(PRKAG2):c.946+8G>A
NM_016203.4(PRKAG2):c.947-7G>A rs1554464198
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=) rs397517284

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