ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance for Cardiomyopathy

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Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
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.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys) rs730880989 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.617C>T (p.Pro206Leu) rs182084936 0.00004
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787 0.00003
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115 0.00003
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633 0.00003
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val) rs760511236 0.00003
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val) rs397517274 0.00003
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470 0.00002
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr) rs377603922 0.00002
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu) rs984007665 0.00002
NM_016203.4(PRKAG2):c.1364G>A (p.Arg455Lys) rs747840565 0.00002
NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln) rs373477232 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile) rs778668093 0.00002
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln) rs730880983 0.00002
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter) rs770100112 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.454C>T (p.Arg152Cys) rs752783859 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser) rs757556996 0.00002
NM_016203.4(PRKAG2):c.-12C>G rs765372069 0.00001
NM_016203.4(PRKAG2):c.-6dup rs1203090914 0.00001
NM_016203.4(PRKAG2):c.1052-6A>G rs772764664 0.00001
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr) rs769892556 0.00001
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr) rs1425296851 0.00001
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln) rs139653890 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.131C>T (p.Ala44Val) rs730880984 0.00001
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly) rs940818676 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1450G>C (p.Glu484Gln) rs1469637477 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His) rs144077131 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp) rs878855019 0.00001
NM_016203.4(PRKAG2):c.1621A>G (p.Ile541Val) rs1381567996 0.00001
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys) rs1584912413 0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267 0.00001
NM_016203.4(PRKAG2):c.1693G>C (p.Glu565Gln) rs763331532 0.00001
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) rs1170556084 0.00001
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His) rs375398155 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu) rs730880985 0.00001
NM_016203.4(PRKAG2):c.350C>T (p.Ser117Phe) rs372433693 0.00001
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter) rs1177945294 0.00001
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val) rs1379819489 0.00001
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly) rs768453540 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.410A>G (p.Asn137Ser) rs869025498 0.00001
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser) rs755782342 0.00001
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu) rs397517271 0.00001
NM_016203.4(PRKAG2):c.466+2T>G rs962806505 0.00001
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe) rs1832795622 0.00001
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe) rs748557485 0.00001
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro) rs969117866 0.00001
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln) rs765259437 0.00001
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) rs1131692281 0.00001
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His) rs551795395 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe) rs267601424 0.00001
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly) rs730880987 0.00001
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu) rs200181419 0.00001
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu) rs766460601 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.820G>A (p.Val274Ile) rs917493455 0.00001
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) rs730880975 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_016203.4(PRKAG2):c.-3G>A
NM_016203.4(PRKAG2):c.-6AG[1] rs1286229827
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1006-5T>A rs1807870439
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys) rs2151024095
NM_016203.4(PRKAG2):c.103G>T (p.Val35Leu) rs778222674
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile) rs1227002684
NM_016203.4(PRKAG2):c.1102G>A (p.Ala368Thr) rs769212614
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser) rs769212614
NM_016203.4(PRKAG2):c.114+3G>A rs2151920361
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val) rs1806859703
NM_016203.4(PRKAG2):c.1192A>G (p.Ile398Val) rs2151008313
NM_016203.4(PRKAG2):c.1204A>G (p.Lys402Glu) rs1806853581
NM_016203.4(PRKAG2):c.1246C>T (p.Pro416Ser)
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
NM_016203.4(PRKAG2):c.1303A>G (p.Asn435Asp) rs1806116546
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg) rs1806111411
NM_016203.4(PRKAG2):c.1328C>T (p.Thr443Ile)
NM_016203.4(PRKAG2):c.1333A>T (p.Ile445Phe) rs1344209675
NM_016203.4(PRKAG2):c.1357G>T (p.Val453Leu)
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly) rs779098740
NM_016203.4(PRKAG2):c.1394A>G (p.Glu465Gly)
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile) rs1806009426
NM_016203.4(PRKAG2):c.1437+1G>A rs2150993817
NM_016203.4(PRKAG2):c.1466A>G (p.Asn489Ser) rs1805707497
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile) rs766113743
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala) rs1060503024
NM_016203.4(PRKAG2):c.1561G>A (p.Val521Met) rs767550594
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=) rs1563132006
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn) rs1804709862
NM_016203.4(PRKAG2):c.1618A>G (p.Ser540Gly) rs1804709282
NM_016203.4(PRKAG2):c.1630A>T (p.Ile544Phe)
NM_016203.4(PRKAG2):c.1658C>A (p.Ala553Asp) rs2150971447
NM_016203.4(PRKAG2):c.1669A>C (p.Thr557Pro) rs2150971355
NM_016203.4(PRKAG2):c.1676C>T (p.Ala559Val) rs1804693201
NM_016203.4(PRKAG2):c.1688A>G (p.Gln563Arg) rs1803937738
NM_016203.4(PRKAG2):c.1705dup (p.Glu569fs) rs1803935878
NM_016203.4(PRKAG2):c.173A>T (p.His58Leu) rs1289539756
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met) rs1288414866
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser) rs764915841
NM_016203.4(PRKAG2):c.200T>G (p.Phe67Cys) rs2151803877
NM_016203.4(PRKAG2):c.206C>G (p.Pro69Arg)
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.224G>T (p.Gly75Val) rs199963585
NM_016203.4(PRKAG2):c.250C>A (p.Arg84=) rs61746358
NM_016203.4(PRKAG2):c.250C>G (p.Arg84Gly) rs61746358
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met) rs574029693
NM_016203.4(PRKAG2):c.286A>C (p.Lys96Gln) rs2076656799
NM_016203.4(PRKAG2):c.295C>T (p.Pro99Ser) rs773748344
NM_016203.4(PRKAG2):c.311C>A (p.Thr104Asn) rs2076655530
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del) rs2076654551
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.358C>T (p.Arg120Cys) rs763144065
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His) rs775756069
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
NM_016203.4(PRKAG2):c.443G>C (p.Arg148Thr) rs2076649283
NM_016203.4(PRKAG2):c.447T>A (p.Phe149Leu) rs1490431197
NM_016203.4(PRKAG2):c.452C>G (p.Ser151Cys)
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys) rs1586486518
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup) rs1832797348
NM_016203.4(PRKAG2):c.482C>G (p.Ser161Cys) rs748557485
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
NM_016203.4(PRKAG2):c.520A>G (p.Thr174Ala) rs1832789600
NM_016203.4(PRKAG2):c.524T>G (p.Phe175Cys) rs2151477251
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.550C>T (p.Pro184Ser) rs545533727
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.584C>T (p.Ser195Phe) rs750592417
NM_016203.4(PRKAG2):c.592C>G (p.Pro198Ala) rs753859556
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.607_625del (p.Arg203fs) rs2151476744
NM_016203.4(PRKAG2):c.608G>A (p.Arg203Lys)
NM_016203.4(PRKAG2):c.629A>T (p.Gln210Leu) rs1585679990
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala) rs1832761436
NM_016203.4(PRKAG2):c.667T>A (p.Tyr223Asn) rs730880974
NM_016203.4(PRKAG2):c.679A>C (p.Lys227Gln) rs766460601
NM_016203.4(PRKAG2):c.684+1G>A rs1457532924
NM_016203.4(PRKAG2):c.757G>A (p.Val253Ile) rs1814251529
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
NM_016203.4(PRKAG2):c.767C>T (p.Ser256Leu) rs2151134988
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter) rs886062100
NM_016203.4(PRKAG2):c.790T>A (p.Phe264Ile) rs1814241368
NM_016203.4(PRKAG2):c.851A>C (p.Asp284Ala)
NM_016203.4(PRKAG2):c.864A>C (p.Gln288His) rs1814227620
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser) rs1268890991
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
NM_016203.4(PRKAG2):c.938G>A (p.Ser313Asn) rs748873027

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