ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 450
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016203.3(PRKAG2):c.-520C>T rs73160072 0.01266
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.*127C>G rs189787963 0.00397
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.*964G>A rs75512992 0.00181
NM_016203.4(PRKAG2):c.*614A>T rs567058170 0.00160
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.*156A>G rs28763997 0.00062
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.*135T>C rs184932311 0.00041
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.*365G>A rs886062098 0.00034
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.-249G>C rs534059998 0.00016
NM_016203.4(PRKAG2):c.-481G>A rs373697168 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016203.4(PRKAG2):c.*1030T>G rs867502251 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
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.429G>A (p.Ser143=) rs757727533 0.00008
NM_016203.4(PRKAG2):c.*55C>T rs371637024 0.00006
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln) rs564358410 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.1679-3C>T rs371543989 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016203.4(PRKAG2):c.*1043G>A rs1207057314 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 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.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu) rs182084936 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016203.4(PRKAG2):c.*1012T>G rs886062095 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.-16A>G rs200468798 0.00003
NM_016203.4(PRKAG2):c.-397G>C rs886062106 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.66C>T (p.Gly22=) rs730880971 0.00003
NM_016203.4(PRKAG2):c.945A>G (p.Val315=) rs759393540 0.00003
NM_016203.4(PRKAG2):c.*419C>T rs951231157 0.00002
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.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.356G>A (p.Arg119Gln) rs142808871 0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 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.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.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.1450G>C (p.Glu484Gln) rs1469637477 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.1621A>G (p.Ile541Val) rs1381567996 0.00001
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys) rs1584912413 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.1693G>C (p.Glu565Gln) rs763331532 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.274C>A (p.Pro92Thr) rs1170556084 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.350C>T (p.Ser117Phe) rs372433693 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.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.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.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.629A>G (p.Gln210Arg) rs1585679990 0.00001
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly) rs730880987 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.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625 0.00001
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg) rs1280299073 0.00001
NM_016203.4(PRKAG2):c.755-1G>A rs778614872 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.88A>C (p.Arg30=) rs756923555 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.(?_151252200)_(151575316_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)dup
NC_000007.13:g.(?_151254277)_(151254328_?)del
NC_000007.13:g.(?_151372486)_(151372743_?)del
NC_000007.13:g.(?_151372486)_(151372743_?)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.(?_151573582)_(151573715_?)dup
NM_016203.3(PRKAG2):c.-517G>T rs886062107
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA rs1584964948
NM_016203.4(PRKAG2):c.*1021T>G rs199973452
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.*256T>G rs1803889003
NM_016203.4(PRKAG2):c.*350C>A rs886062099
NM_016203.4(PRKAG2):c.*398C>T rs1232386894
NM_016203.4(PRKAG2):c.*450T>C rs1803859194
NM_016203.4(PRKAG2):c.*471T>C rs1803856114
NM_016203.4(PRKAG2):c.*612G>A rs371404960
NM_016203.4(PRKAG2):c.*771C>T rs1803806831
NM_016203.4(PRKAG2):c.*835T>C rs886062097
NM_016203.4(PRKAG2):c.*887G>A rs886062096
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.*953T>A rs552411344
NM_016203.4(PRKAG2):c.-252C>T rs546312513
NM_016203.4(PRKAG2):c.-262C>T rs886062103
NM_016203.4(PRKAG2):c.-274C>A rs886062104
NM_016203.4(PRKAG2):c.-351G>A rs886062105
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.1005+6T>C rs1554464077
NM_016203.4(PRKAG2):c.1006-5T>A rs1807870439
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.1038T>G (p.Ile346Met) rs755029209
NM_016203.4(PRKAG2):c.103G>T (p.Val35Leu) rs778222674
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.1073T>A (p.Phe358Tyr) rs2151014616
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>A (p.Ala368Thr) rs769212614
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser) rs769212614
NM_016203.4(PRKAG2):c.1106+15T>G rs193922696
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.1192A>G (p.Ile398Val) rs2151008313
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.1204A>G (p.Lys402Glu) rs1806853581
NM_016203.4(PRKAG2):c.1233+1G>C
NM_016203.4(PRKAG2):c.1246C>T (p.Pro416Ser)
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.1303A>G (p.Asn435Asp) rs1806116546
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.1328C>T (p.Thr443Ile)
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val) rs1344209675
NM_016203.4(PRKAG2):c.1333A>T (p.Ile445Phe) 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.1357G>T (p.Val453Leu)
NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly) rs779098740
NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala) rs1554455000
NM_016203.4(PRKAG2):c.1376C>T (p.Ala459Val) rs1806096948
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.1394A>G (p.Glu465Gly)
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+1G>A rs2150993817
NM_016203.4(PRKAG2):c.1437+6T>C
NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr) rs2150988951
NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr) rs1554453641
NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys) rs1805709675
NM_016203.4(PRKAG2):c.1466A>G (p.Asn489Ser) rs1805707497
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.1561G>A (p.Val521Met) rs767550594
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.1587C>G (p.Val529=) rs1563132006
NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
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.1625T>C (p.Val542Ala)
NM_016203.4(PRKAG2):c.1630A>T (p.Ile544Phe)
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.1658C>A (p.Ala553Asp) rs2150971447
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe) rs1563131128
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
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.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.1688A>G (p.Gln563Arg) rs1803937738
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys) rs730880983
NM_016203.4(PRKAG2):c.1705dup (p.Glu569fs) rs1803935878
NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly) rs2150957786
NM_016203.4(PRKAG2):c.173A>T (p.His58Leu) rs1289539756
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.200T>G (p.Phe67Cys) rs2151803877
NM_016203.4(PRKAG2):c.206C>G (p.Pro69Arg)
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.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.224G>T (p.Gly75Val) 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.248C>T (p.Pro83Leu) rs757900380
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.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.278T>C (p.Val93Ala) rs2076656944
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.314T>C (p.Val105Ala)
NM_016203.4(PRKAG2):c.320C>G (p.Pro107Arg)
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.341C>T (p.Pro114Leu) 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>A (p.Arg120His) rs775756069
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>G (p.Ser131Cys)
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser) rs1386603764
NM_016203.4(PRKAG2):c.410A>T (p.Asn137Ile) rs869025498
NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys) rs2076650862
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.443G>C (p.Arg148Thr) rs2076649283
NM_016203.4(PRKAG2):c.447T>A (p.Phe149Leu) rs1490431197
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
NM_016203.4(PRKAG2):c.452C>G (p.Ser151Cys)
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.471C>T (p.Ser157=) rs141804012
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.482C>G (p.Ser161Cys) rs748557485
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe) rs779526669
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
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.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.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.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.584C>T (p.Ser195Phe) rs750592417
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_016203.4(PRKAG2):c.592C>G (p.Pro198Ala) rs753859556
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.607_625del (p.Arg203fs) rs2151476744
NM_016203.4(PRKAG2):c.608G>A (p.Arg203Lys)
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.629A>T (p.Gln210Leu) rs1585679990
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.667T>A (p.Tyr223Asn) rs730880974
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
NM_016203.4(PRKAG2):c.679A>C (p.Lys227Gln) rs766460601
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser) rs2151476444
NM_016203.4(PRKAG2):c.684+1G>A rs1457532924
NM_016203.4(PRKAG2):c.684+1G>C
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.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.787C>T (p.Arg263Ter) rs886062100
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
NM_016203.4(PRKAG2):c.790T>A (p.Phe264Ile) rs1814241368
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.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.865G>C (p.Val289Leu) rs397517282
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499
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.90G>T (p.Arg30Ser) rs1268890991
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.938G>A (p.Ser313Asn) rs748873027
NM_016203.4(PRKAG2):c.947-19_947-18del
NM_016203.4(PRKAG2):c.947-22_947-6dup rs1808529942
NM_016203.4(PRKAG2):c.947-7G>A rs1554464198
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.