ClinVar Miner

List of variants in gene PRKAG2 reported as likely benign for Cardiovascular phenotype

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
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.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser) rs727504512 0.00054
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
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.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=) rs768299371 0.00016
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533 0.00008
NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=) rs764198777 0.00007
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=) rs781153622 0.00004
NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=) rs368852903 0.00004
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=) rs202056358 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=) rs556852534 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_016203.4(PRKAG2):c.318C>T (p.Phe106=) rs373277092 0.00003
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=) rs147365679 0.00003
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=) rs587781126 0.00003
NM_016203.4(PRKAG2):c.129C>T (p.Phe43=) rs770946241 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.618G>A (p.Pro206=) rs145827515 0.00002
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=) rs770773856 0.00001
NM_016203.4(PRKAG2):c.1116T>C (p.Asp372=) rs1359495243 0.00001
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=) rs753059650 0.00001
NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=) rs755421350 0.00001
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=) rs397517265 0.00001
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=) rs367768776 0.00001
NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=) rs1196648905 0.00001
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970 0.00001
NM_016203.4(PRKAG2):c.222A>G (p.Lys74=) rs1265668637 0.00001
NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys) rs778331706 0.00001
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=) rs1057520352 0.00001
NM_016203.4(PRKAG2):c.546C>T (p.His182=) rs1221506447 0.00001
NM_016203.4(PRKAG2):c.556C>A (p.Arg186=) rs200392688 0.00001
NM_016203.4(PRKAG2):c.570C>T (p.Arg190=) rs141191531 0.00001
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=) rs756215060 0.00001
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=) rs781522393 0.00001
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=) rs149820808 0.00001
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=) rs774279454 0.00001
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625 0.00001
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) rs756923555 0.00001
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=) rs201876556 0.00001
NM_016203.4(PRKAG2):c.105G>T (p.Val35=)
NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)
NM_016203.4(PRKAG2):c.1272C>T (p.Asn424=)
NM_016203.4(PRKAG2):c.1273C>T (p.Leu425=)
NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=) rs1258494294
NM_016203.4(PRKAG2):c.144G>A (p.Leu48=)
NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=) rs376762359
NM_016203.4(PRKAG2):c.162T>C (p.Gly54=)
NM_016203.4(PRKAG2):c.207G>T (p.Pro69=) rs144384573
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.258C>T (p.Ser86=)
NM_016203.4(PRKAG2):c.27G>A (p.Lys9=)
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=) rs774628602
NM_016203.4(PRKAG2):c.351C>T (p.Ser117=) rs1048504272
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.501C>A (p.Thr167=)
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=) rs1022959045
NM_016203.4(PRKAG2):c.559T>C (p.Leu187=)
NM_016203.4(PRKAG2):c.591C>G (p.Pro197=) rs587781126
NM_016203.4(PRKAG2):c.600A>G (p.Thr200=)
NM_016203.4(PRKAG2):c.666C>T (p.His222=)
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=) rs730880971
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000
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.993T>C (p.Tyr331=) rs397517284
NM_016203.4(PRKAG2):c.99G>T (p.Leu33=)

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