ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance by Ambry Genetics

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met) rs397517269 0.00020
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg) rs781741013 0.00012
NM_016203.4(PRKAG2):c.187-4G>A rs752294420 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu) rs730880972 0.00006
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.1679-3C>T rs371543989 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met) rs540525001 0.00004
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu) rs876657963 0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999 0.00004
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470 0.00002
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu) rs984007665 0.00002
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln) rs142808871 0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) rs886062101 0.00002
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys) rs752783859 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu) rs749753053 0.00002
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val) rs769428744 0.00001
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr) rs1425296851 0.00001
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) rs758756757 0.00001
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr) rs373919593 0.00001
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) rs730880980 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg) rs1430071393 0.00001
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys) rs1584912413 0.00001
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly) rs1243030792 0.00001
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu) rs730880985 0.00001
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu) rs369471907 0.00001
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu) rs775756069 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu) rs150188173 0.00001
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe) rs1832795622 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser) rs753859556 0.00001
NM_016203.4(PRKAG2):c.632G>A (p.Ser211Asn) rs768909087 0.00001
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser) rs1057524523 0.00001
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val) rs730880988 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1006-1G>A
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.100C>T (p.Arg34Cys)
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.1061T>C (p.Leu354Ser)
NM_016203.4(PRKAG2):c.1066G>A (p.Glu356Lys)
NM_016203.4(PRKAG2):c.1079C>T (p.Pro360Leu)
NM_016203.4(PRKAG2):c.108C>G (p.His36Gln)
NM_016203.4(PRKAG2):c.1099G>A (p.Asp367Asn)
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser) rs769212614
NM_016203.4(PRKAG2):c.110T>C (p.Ile37Thr)
NM_016203.4(PRKAG2):c.114+2T>G
NM_016203.4(PRKAG2):c.1149C>A (p.His383Gln)
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
NM_016203.4(PRKAG2):c.1264A>G (p.Lys422Glu)
NM_016203.4(PRKAG2):c.1321C>T (p.Pro441Ser)
NM_016203.4(PRKAG2):c.1349A>G (p.Asn450Ser)
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
NM_016203.4(PRKAG2):c.1423A>G (p.Lys475Glu)
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1525G>T (p.Val509Leu)
NM_016203.4(PRKAG2):c.1532G>A (p.Cys511Tyr)
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala) rs730880982
NM_016203.4(PRKAG2):c.1648A>G (p.Ile550Val)
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr) rs61744760
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys) rs730880983
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.26A>G (p.Lys9Arg) rs574029693
NM_016203.4(PRKAG2):c.324C>A (p.Phe108Leu)
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg) rs375174733
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His) rs369471907
NM_016203.4(PRKAG2):c.355C>G (p.Arg119Gly)
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
NM_016203.4(PRKAG2):c.433G>C (p.Gly145Arg)
NM_016203.4(PRKAG2):c.467-2A>G
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe) rs779526669
NM_016203.4(PRKAG2):c.4G>A (p.Gly2Arg)
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu) rs145006140
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys) rs772303730
NM_016203.4(PRKAG2):c.571A>G (p.Ile191Val) rs528201736
NM_016203.4(PRKAG2):c.575A>C (p.Tyr192Ser)
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg) rs41317142
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr) rs1554530665
NM_016203.4(PRKAG2):c.626T>A (p.Phe209Tyr)
NM_016203.4(PRKAG2):c.631A>G (p.Ser211Gly)
NM_016203.4(PRKAG2):c.683C>G (p.Ala228Gly)
NM_016203.4(PRKAG2):c.684+1G>A rs1457532924
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs) rs1585114507
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter) rs886062100
NM_016203.4(PRKAG2):c.812A>G (p.Tyr271Cys)
NM_016203.4(PRKAG2):c.864+3_864+6del
NM_016203.4(PRKAG2):c.876CTT[1] (p.Phe294del)
NM_016203.4(PRKAG2):c.89G>A (p.Arg30Lys)
NM_016203.4(PRKAG2):c.925A>G (p.Ser309Gly)
NM_016203.4(PRKAG2):c.937A>C (p.Ser313Arg)

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