ClinVar Miner

List of variants in gene PRKAG2 reported as benign for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_016203.4(PRKAG2):c.*1061G>A rs7429 0.54155
NM_016203.4(PRKAG2):c.*112A>G rs8961 0.54129
NM_016203.4(PRKAG2):c.*522G>T rs1051956 0.53580
NM_016203.4(PRKAG2):c.114+13034A>G rs4726104 0.49619
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_016203.4(PRKAG2):c.-90G>T rs76351165 0.05040
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_016203.4(PRKAG2):c.*452C>T rs17714947 0.03769
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_016203.4(PRKAG2):c.1234-317T>G rs141541040 0.00473
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg) rs1280299073 0.00001
NM_016203.4(PRKAG2):c.1006-9del rs775574266
NM_016203.4(PRKAG2):c.1006-9dup rs775574266
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000

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