ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_016203.4(PRKAG2):c.-26C>T rs66628686
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409
NM_016203.4(PRKAG2):c.1234-317T>G
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000

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