ClinVar Miner

List of variants reported as uncertain significance for Lethal congenital glycogen storage disease of heart

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 327
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.-322T>C rs142348760 0.00504
NM_016203.4(PRKAG2):c.-40C>T rs148715621 0.00503
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln) rs564358410 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.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.361A>G (p.Met121Val) rs760511236 0.00003
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=) rs730880971 0.00003
NM_016203.4(PRKAG2):c.945A>G (p.Val315=) rs759393540 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.1432G>A (p.Val478Ile) rs778668093 0.00002
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu) rs752198913 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.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val) rs769428744 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.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703 0.00001
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val) rs730880984 0.00001
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn) rs199863116 0.00001
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly) rs940818676 0.00001
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) rs730880980 0.00001
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu) rs373477232 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1438-3C>A rs773864390 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.1502G>A (p.Arg501His) rs144077131 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg) rs370899599 0.00001
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp) rs878855019 0.00001
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg) rs1335765564 0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267 0.00001
NM_016203.4(PRKAG2):c.186+7C>T rs886062102 0.00001
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn) rs369687307 0.00001
NM_016203.4(PRKAG2):c.187-3C>T rs972389122 0.00001
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970 0.00001
NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr) rs1300640443 0.00001
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His) rs375398155 0.00001
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly) rs1243030792 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.355C>T (p.Arg119Ter) rs1177945294 0.00001
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu) rs775756069 0.00001
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val) rs1379819489 0.00001
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys) rs2076651870 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.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.500C>T (p.Thr167Ile) rs766578540 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.569G>A (p.Arg190His) rs551795395 0.00001
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe) rs267601424 0.00001
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg) rs1585679990 0.00001
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser) rs1057524523 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.684C>T (p.Ala228=) rs151108625 0.00001
NM_016203.4(PRKAG2):c.685-1G>A rs1824685527 0.00001
NM_016203.4(PRKAG2):c.685-3C>T rs1057520353 0.00001
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val) rs745772277 0.00001
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln) rs397517281 0.00001
NM_016203.4(PRKAG2):c.755-1G>A rs778614872 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
NC_000007.13:g.(?_150642453)_(151573705_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)dup
NC_000007.13:g.(?_151254277)_(151254328_?)del
NC_000007.13:g.(?_151254287)_(151273558_?)dup
NC_000007.13:g.(?_151262800)_(152373170_?)del
NC_000007.13:g.(?_151267237)_(151273558_?)dup
NC_000007.13:g.(?_151292411)_(151292560_?)dup
NC_000007.13:g.(?_151372486)_(151372743_?)del
NC_000007.13:g.(?_151372486)_(151372743_?)dup
NC_000007.13:g.(?_151372486)_(151483647_?)dup
NC_000007.13:g.(?_151478218)_(151483647_?)del
NC_000007.13:g.(?_151478218)_(151573705_?)dup
NC_000007.13:g.(?_151478228)_(151573715_?)dup
NC_000007.13:g.(?_151573572)_(151573705_?)dup
NC_000007.13:g.(?_151573582)_(151573715_?)dup
NM_016203.3(PRKAG2):c.-517G>T rs886062107
NM_016203.3(PRKAG2):c.-575C>T rs886062108
NM_016203.3(PRKAG2):c.-580C>T rs886062109
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA rs1584964948
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT rs886062094
NM_016203.4(PRKAG2):c.*1029dup rs1554444891
NM_016203.4(PRKAG2):c.*1040del rs56898021
NM_016203.4(PRKAG2):c.*1040dup rs56898021
NM_016203.4(PRKAG2):c.*1041dup rs886062093
NM_016203.4(PRKAG2):c.*350C>A rs886062099
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.-274C>A rs886062104
NM_016203.4(PRKAG2):c.-351G>A rs886062105
NM_016203.4(PRKAG2):c.1005+6T>C rs1554464077
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.1015T>A (p.Tyr339Asn) rs1807867041
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys) rs2151024095
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg) rs2151024054
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.1050G>A (p.Arg350=) rs2151023937
NM_016203.4(PRKAG2):c.1051+6C>G
NM_016203.4(PRKAG2):c.1051_1051+2dup rs2151023914
NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys) rs1554459431
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val) rs1554459423
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile) rs1227002684
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg) rs2080409943
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly) rs1807219152
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser) rs769212614
NM_016203.4(PRKAG2):c.1106+4A>C rs912304170
NM_016203.4(PRKAG2):c.1107-3C>T rs2151008803
NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His) rs760826751
NM_016203.4(PRKAG2):c.114+3G>A rs2151920361
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=) rs397517261
NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)
NM_016203.4(PRKAG2):c.1169C>T (p.Pro390Leu) rs2151008453
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val) rs1806859703
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala) rs1554457901
NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)
NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val) rs2151920498
NM_016203.4(PRKAG2):c.1233+1G>C
NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys) rs1806121695
NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)
NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala) rs2150996293
NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)
NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg) rs1806111411
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val) rs1344209675
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser) rs1554455087
NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)
NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)
NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser)
NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly) rs779098740
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val) rs878855018
NM_016203.4(PRKAG2):c.1392T>A (p.Asp464Glu) rs2150995495
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
NM_016203.4(PRKAG2):c.1395_1396del (p.Glu465fs)
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile) rs1806009426
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala) rs1806007620
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr) rs1806004431
NM_016203.4(PRKAG2):c.1437+6T>C
NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr) rs2150988951
NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys) rs1805709675
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs) rs1584934953
NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His) rs730880981
NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu) rs761196275
NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr) rs1584934806
NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser) rs766113743
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile) rs766113743
NM_016203.4(PRKAG2):c.1545A>T (p.Glu515Asp) rs2150988575
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala) rs1060503024
NM_016203.4(PRKAG2):c.1564G>A (p.Asp522Asn) rs199985555
NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly) rs2150988481
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg) rs1563141020
NM_016203.4(PRKAG2):c.1574T>A (p.Val525Glu)
NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)
NM_016203.4(PRKAG2):c.1584+3G>A
NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn) rs1804709862
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr) rs1804703888
NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val)
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr) rs267606979
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe) rs1563131128
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
NM_016203.4(PRKAG2):c.1678+5A>G rs1804692531
NM_016203.4(PRKAG2):c.1679-1G>A rs1563120287
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr) rs61744760
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys) rs730880983
NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly) rs2150957786
NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)
NM_016203.4(PRKAG2):c.186+3A>G
NM_016203.4(PRKAG2):c.186+4A>C
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.1A>G (p.Met1Val)
NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg) rs2151803809
NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu) rs199963585
NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro)
NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)
NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg) rs368871685
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)
NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)
NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe) rs2076657636
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met) rs574029693
NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala)
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del) rs2076654551
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile) rs1060503025
NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly) rs1563659108
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg) rs375174733
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser) rs1554596200
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys) rs763144065
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro) rs775756069
NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe) rs2151803284
NM_016203.4(PRKAG2):c.388del (p.Ser130fs)
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser) rs1386603764
NM_016203.4(PRKAG2):c.416A>G (p.Asn139Ser) rs1042047141
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala) rs2076650288
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro) rs1563775284
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys) rs1586486518
NM_016203.4(PRKAG2):c.466+18T>C
NM_016203.4(PRKAG2):c.466+1G>A rs1563658309
NM_016203.4(PRKAG2):c.466+1G>C
NM_016203.4(PRKAG2):c.466+6A>G rs2076648193
NM_016203.4(PRKAG2):c.467-2A>T rs1554531076
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup) rs1832797348
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) rs1832796232
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del) rs1002236859
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe) rs779526669
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.53del (p.Gly18fs)
NM_016203.4(PRKAG2):c.547G>C (p.Glu183Gln) rs1131692281
NM_016203.4(PRKAG2):c.550C>G (p.Pro184Ala) rs545533727
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.562G>C (p.Glu188Gln) rs772303730
NM_016203.4(PRKAG2):c.566A>G (p.Asn189Ser) rs2151477098
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser) rs202200501
NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys)
NM_016203.4(PRKAG2):c.569G>T (p.Arg190Leu) rs551795395
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala) rs2151477004
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_016203.4(PRKAG2):c.593del (p.Pro198fs)
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu) rs1554530705
NM_016203.4(PRKAG2):c.619_636del (p.Ser207_Pro212del) rs2151476689
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr) rs1554530665
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys) rs781267213
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala) rs1832761436
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg) rs1289045435
NM_016203.4(PRKAG2):c.665A>T (p.His222Leu)
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser) rs2151476444
NM_016203.4(PRKAG2):c.684+1G>C
NM_016203.4(PRKAG2):c.685-3C>A
NM_016203.4(PRKAG2):c.685-6C>A rs772481251
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val) rs1554507908
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup) rs878855020
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val) rs1338523761
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu) rs201240745
NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg) rs1183522324
NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys) rs1271179381
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val) rs1824657994
NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg) rs765544988
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val) rs543247293
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln) rs2151325092
NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys) rs397517281
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly) rs1824644597
NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)
NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln) rs1585369730
NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs) rs1585114507
NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=) rs886062100
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
NM_016203.4(PRKAG2):c.813T>A (p.Tyr271Ter) rs1814236823
NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg) rs1164114205
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu) rs397517282
NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)
NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val) rs730880976
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly) rs1808933429
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs) rs2151042865
NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)
NM_016203.4(PRKAG2):c.947-19_947-18del
NM_016203.4(PRKAG2):c.947-22_947-6dup rs1808529942
NM_016203.4(PRKAG2):c.947G>A (p.Gly316Glu)
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val) rs397517283
NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys) rs730880977
NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met) rs1060503023
NM_016203.4(PRKAG2):c.991T>C (p.Tyr331His)

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