ClinVar Miner

List of variants in gene GPSM2 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_013296.5(GPSM2):c.1062+189C>G rs338491 0.37085
NM_013296.5(GPSM2):c.1264-272C>T rs338470 0.35875
NM_013296.5(GPSM2):c.56+49G>A rs10857987 0.35171
NM_013296.5(GPSM2):c.1193-110G>A rs1664419 0.33419
NM_013296.5(GPSM2):c.1815+22G>A rs705268 0.33412
NM_013296.5(GPSM2):c.1263+121C>T rs11102642 0.19763
NM_013296.5(GPSM2):c.1815+233G>A rs11102655 0.12510
NM_013296.5(GPSM2):c.798-42A>T rs2270536 0.10221
NM_013296.5(GPSM2):c.954-42T>G rs9662782 0.09896
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09453
NM_013296.5(GPSM2):c.1441-296A>G rs58151869 0.07481
NM_013296.5(GPSM2):c.1815+244G>T rs9661361 0.06647
NM_013296.5(GPSM2):c.56+145dup rs150095508 0.05461
NM_013296.5(GPSM2):c.1192+248C>G rs12123514 0.05283
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435 0.03167
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) rs35089879 0.03137
NM_013296.5(GPSM2):c.278+5T>C rs9727773 0.03074
NM_013296.5(GPSM2):c.57-86C>T rs75774985 0.02816
NM_013296.5(GPSM2):c.1263+221T>G rs12126463 0.02798
NM_013296.5(GPSM2):c.1062+97A>G rs9662522 0.02666
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02561
NM_013296.5(GPSM2):c.557+17A>G rs12028832 0.02497
NM_013296.5(GPSM2):c.1263+108A>C rs114535705 0.02141
NM_013296.5(GPSM2):c.953+231A>G rs338490 0.01949
NM_013296.5(GPSM2):c.1062+284G>A rs61440165 0.01520
NM_013296.5(GPSM2):c.1601-25T>C rs12034820 0.01418
NM_013296.5(GPSM2):c.87G>A (p.Leu29=) rs112935966 0.01135
NM_013296.5(GPSM2):c.56+155T>C rs191894046 0.00374
NM_013296.5(GPSM2):c.1600+30T>A rs201256424 0.00147
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) rs190381417 0.00139
NM_013296.5(GPSM2):c.697A>G (p.Lys233Glu) rs142923222 0.00085
NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) rs141562079 0.00083
NM_013296.5(GPSM2):c.1263+11G>A rs201878481 0.00076
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_013296.5(GPSM2):c.1631C>T (p.Thr544Met) rs191870755 0.00025
NM_013296.5(GPSM2):c.953+18T>G rs371434621 0.00021
NM_013296.5(GPSM2):c.953+11C>T rs372955306 0.00014
NM_013296.5(GPSM2):c.1468G>A (p.Glu490Lys) rs151097410 0.00013
NM_013296.5(GPSM2):c.835G>C (p.Ala279Pro) rs370245661 0.00012
NM_013296.5(GPSM2):c.1670G>A (p.Arg557His) rs148266178 0.00011
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys) rs775142959 0.00010
NM_013296.5(GPSM2):c.805C>T (p.Leu269=) rs141200340 0.00009
NM_013296.5(GPSM2):c.1264-6T>C rs765590962 0.00008
NM_013296.5(GPSM2):c.1199G>A (p.Arg400His) rs754166364 0.00007
NM_013296.5(GPSM2):c.1440+4C>T rs557163760 0.00007
NM_013296.5(GPSM2):c.1601-38T>G rs756274049 0.00007
NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn) rs199536935 0.00007
NM_013296.5(GPSM2):c.57-10A>G rs184863735 0.00007
NM_013296.5(GPSM2):c.1356G>A (p.Gly452=) rs377658968 0.00006
NM_013296.5(GPSM2):c.1401C>T (p.Ala467=) rs768529456 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys) rs754926445 0.00006
NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln) rs371700490 0.00006
NM_013296.5(GPSM2):c.953+12G>A rs377727537 0.00006
NM_013296.5(GPSM2):c.1062+1G>T rs777695770 0.00005
NM_013296.5(GPSM2):c.558-11C>T rs367811611 0.00005
NM_013296.5(GPSM2):c.683G>A (p.Arg228His) rs757559568 0.00005
NM_013296.5(GPSM2):c.1217G>A (p.Arg406Gln) rs184590650 0.00004
NM_013296.5(GPSM2):c.1350G>A (p.Leu450=) rs963843637 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_013296.5(GPSM2):c.681+11A>G rs776936129 0.00004
NM_013296.5(GPSM2):c.1208T>C (p.Leu403Ser) rs747510797 0.00003
NM_013296.5(GPSM2):c.121C>T (p.Arg41Cys) rs762581956 0.00003
NM_013296.5(GPSM2):c.1493G>A (p.Arg498Gln) rs762107426 0.00003
NM_013296.5(GPSM2):c.1504A>C (p.Asn502His) rs373972766 0.00003
NM_013296.5(GPSM2):c.414+9G>A rs766290203 0.00003
NM_013296.5(GPSM2):c.557+2T>C rs758733242 0.00003
NM_013296.5(GPSM2):c.1093C>T (p.Arg365Ter) rs367682612 0.00002
NM_013296.5(GPSM2):c.1718G>A (p.Arg573His) rs1230215742 0.00002
NM_013296.5(GPSM2):c.172C>T (p.Leu58=) rs1057524219 0.00002
NM_013296.5(GPSM2):c.1021G>A (p.Ala341Thr) rs727505313 0.00001
NM_013296.5(GPSM2):c.1058G>A (p.Arg353Lys) rs145339242 0.00001
NM_013296.5(GPSM2):c.1062+17A>C rs747595387 0.00001
NM_013296.5(GPSM2):c.1063-1G>T rs773068151 0.00001
NM_013296.5(GPSM2):c.1094G>A (p.Arg365Gln) rs751581246 0.00001
NM_013296.5(GPSM2):c.1213C>T (p.Arg405Cys) rs375362439 0.00001
NM_013296.5(GPSM2):c.1382C>T (p.Thr461Ile) rs749098259 0.00001
NM_013296.5(GPSM2):c.1404T>C (p.Ser468=) rs1227812516 0.00001
NM_013296.5(GPSM2):c.1421G>A (p.Arg474Gln) rs142353979 0.00001
NM_013296.5(GPSM2):c.1460T>C (p.Ile487Thr) rs763455944 0.00001
NM_013296.5(GPSM2):c.1600+10C>T rs772275332 0.00001
NM_013296.5(GPSM2):c.1626C>T (p.Pro542=) rs764795652 0.00001
NM_013296.5(GPSM2):c.1669C>T (p.Arg557Cys) rs995472329 0.00001
NM_013296.5(GPSM2):c.1712G>A (p.Gly571Glu) rs988531804 0.00001
NM_013296.5(GPSM2):c.1717C>T (p.Arg573Cys) rs769492005 0.00001
NM_013296.5(GPSM2):c.1748G>A (p.Ser583Asn) rs1650951252 0.00001
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734 0.00001
NM_013296.5(GPSM2):c.249A>G (p.Glu83=) rs727504553 0.00001
NM_013296.5(GPSM2):c.257A>G (p.His86Arg) rs376293534 0.00001
NM_013296.5(GPSM2):c.414+4A>G rs772568862 0.00001
NM_013296.5(GPSM2):c.438C>T (p.Tyr146=) rs747878997 0.00001
NM_013296.5(GPSM2):c.459T>C (p.His153=) rs770361895 0.00001
NM_013296.5(GPSM2):c.50G>A (p.Arg17His) rs773654932 0.00001
NM_013296.5(GPSM2):c.557+3G>C rs1648516404 0.00001
NM_013296.5(GPSM2):c.558-9A>G rs758721774 0.00001
NM_013296.5(GPSM2):c.596C>T (p.Ala199Val) rs886043093 0.00001
NM_013296.5(GPSM2):c.597G>A (p.Ala199=) rs745395767 0.00001
NM_013296.5(GPSM2):c.668T>C (p.Ile223Thr) rs774459678 0.00001
NM_013296.5(GPSM2):c.731C>T (p.Ala244Val) rs750034509 0.00001
NM_013296.5(GPSM2):c.797+9A>G rs375261429 0.00001
NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln) rs77121685 0.00001
NM_013296.5(GPSM2):c.844G>T (p.Ala282Ser) rs753366137 0.00001
NM_013296.5(GPSM2):c.-248-179C>G rs146593396
NM_013296.5(GPSM2):c.1062+15A>G rs2524934716
NM_013296.5(GPSM2):c.1062+3A>G rs2101437722
NM_013296.5(GPSM2):c.1062+52G>A rs41310096
NM_013296.5(GPSM2):c.1062+52G>C rs41310096
NM_013296.5(GPSM2):c.1063-7G>A
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.1080_1081del (p.Glu361fs) rs1353848256
NM_013296.5(GPSM2):c.1094G>T (p.Arg365Leu) rs751581246
NM_013296.5(GPSM2):c.1119G>A (p.Met373Ile) rs750908300
NM_013296.5(GPSM2):c.1123C>T (p.Leu375Phe)
NM_013296.5(GPSM2):c.1175T>C (p.Ile392Thr)
NM_013296.5(GPSM2):c.1193-15T>C
NM_013296.5(GPSM2):c.1193-9del
NM_013296.5(GPSM2):c.1194_1198dup (p.Arg400fs) rs1570936325
NM_013296.5(GPSM2):c.1195G>C (p.Val399Leu) rs895587017
NM_013296.5(GPSM2):c.1263+19G>A rs201146412
NM_013296.5(GPSM2):c.1263+19G>T rs201146412
NM_013296.5(GPSM2):c.1264-5T>C
NM_013296.5(GPSM2):c.129C>T (p.Gly43=) rs916602684
NM_013296.5(GPSM2):c.1337_1338del (p.Phe446fs)
NM_013296.5(GPSM2):c.1393C>T (p.Gln465Ter) rs1553215684
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) rs147906282
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) rs772372530
NM_013296.5(GPSM2):c.1501A>G (p.Ser501Gly) rs2101542712
NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del) rs199964596
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013296.5(GPSM2):c.1571C>T (p.Ser524Phe) rs1650792784
NM_013296.5(GPSM2):c.1575C>T (p.Ser525=) rs1364928857
NM_013296.5(GPSM2):c.1577C>T (p.Thr526Ile)
NM_013296.5(GPSM2):c.1600+12C>T rs2101543467
NM_013296.5(GPSM2):c.1600+3_1600+6del rs750981446
NM_013296.5(GPSM2):c.1601-30dup rs770715946
NM_013296.5(GPSM2):c.1601-59TTTTTTG[2] rs151310940
NM_013296.5(GPSM2):c.1706T>G (p.Leu569Trp)
NM_013296.5(GPSM2):c.1769A>G (p.Asn590Ser) rs2523926497
NM_013296.5(GPSM2):c.1782T>G (p.Asp594Glu) rs142453358
NM_013296.5(GPSM2):c.1815+15T>C rs2523927258
NM_013296.5(GPSM2):c.1815+221GT[5] rs146170134
NM_013296.5(GPSM2):c.1815+2T>C rs2101549844
NM_013296.5(GPSM2):c.1815+7_1815+10dup rs751118420
NM_013296.5(GPSM2):c.21C>T (p.Ser7=)
NM_013296.5(GPSM2):c.238A>G (p.Lys80Glu) rs1648421228
NM_013296.5(GPSM2):c.23T>C (p.Met8Thr) rs2101328482
NM_013296.5(GPSM2):c.279-12del rs748086914
NM_013296.5(GPSM2):c.286G>A (p.Gly96Arg) rs1160781980
NM_013296.5(GPSM2):c.289G>A (p.Asp97Asn)
NM_013296.5(GPSM2):c.319A>G (p.Asn107Asp) rs2524887901
NM_013296.5(GPSM2):c.361G>C (p.Ala121Pro) rs1570901529
NM_013296.5(GPSM2):c.36T>C (p.His12=) rs2524809826
NM_013296.5(GPSM2):c.455A>C (p.Tyr152Ser) rs746515335
NM_013296.5(GPSM2):c.485del (p.Pro162fs) rs766556930
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) rs145997327
NM_013296.5(GPSM2):c.544G>A (p.Val182Met)
NM_013296.5(GPSM2):c.558-7C>T rs1046966036
NM_013296.5(GPSM2):c.56+13C>T
NM_013296.5(GPSM2):c.57-124C>T rs338468
NM_013296.5(GPSM2):c.580G>T (p.Ala194Ser) rs2524900965
NM_013296.5(GPSM2):c.605G>A (p.Gly202Glu) rs2101410255
NM_013296.5(GPSM2):c.608G>A (p.Arg203His)
NM_013296.5(GPSM2):c.622C>T (p.Leu208Phe) rs1222355797
NM_013296.5(GPSM2):c.636T>C (p.His212=) rs2101410440
NM_013296.5(GPSM2):c.673C>T (p.His225Tyr)
NM_013296.5(GPSM2):c.681+2del rs2524902421
NM_013296.5(GPSM2):c.690T>G (p.Leu230=) rs2101411478
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013296.5(GPSM2):c.795C>T (p.Tyr265=)
NM_013296.5(GPSM2):c.797+10A>G rs899876063
NM_013296.5(GPSM2):c.826A>C (p.Lys276Gln) rs2524922137
NM_013296.5(GPSM2):c.924C>T (p.His308=) rs2524923828
NM_013296.5(GPSM2):c.952A>T (p.Arg318Ter) rs2524924265
NM_013296.5(GPSM2):c.953+294G>T rs11102616
NM_013296.5(GPSM2):c.954-19G>T rs17030744
NM_013296.5(GPSM2):c.997A>G (p.Thr333Ala) rs775213122
NM_013296.5(GPSM2):c.998dup (p.Ala334fs) rs1557865780

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