ClinVar Miner

List of variants in gene SIK1 reported as uncertain significance for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 417
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs) rs1474186338 0.00019
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512 0.00010
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) rs373576665 0.00010
NM_173354.5(SIK1):c.1888G>A (p.Ala630Thr) rs202116743 0.00008
NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser) rs544711047 0.00007
NM_173354.5(SIK1):c.88G>C (p.Glu30Gln) rs200616322 0.00007
NM_173354.5(SIK1):c.1260G>A (p.Pro420=) rs776487308 0.00006
NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser) rs780476959 0.00006
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061 0.00006
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) rs748371566 0.00005
NM_173354.5(SIK1):c.1849G>A (p.Ala617Thr) rs779097101 0.00005
NM_173354.5(SIK1):c.1870G>A (p.Gly624Ser) rs544350928 0.00005
NM_173354.5(SIK1):c.2201T>C (p.Ile734Thr) rs758936540 0.00005
NM_173354.5(SIK1):c.424G>A (p.Asp142Asn) rs45491503 0.00005
NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln) rs143953116 0.00004
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) rs765573579 0.00004
NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser) rs201009426 0.00004
NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln) rs780535115 0.00003
NM_173354.5(SIK1):c.1403C>T (p.Thr468Met) rs1012778505 0.00003
NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr) rs777106028 0.00003
NM_173354.5(SIK1):c.1932C>G (p.Ser644Arg) rs761924245 0.00003
NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro) rs763160252 0.00003
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu) rs988303758 0.00003
NM_173354.5(SIK1):c.2149G>A (p.Gly717Ser) rs766433765 0.00003
NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu) rs750558686 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr) rs755238635 0.00003
NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) rs745541081 0.00003
NM_173354.5(SIK1):c.50G>A (p.Gly17Asp) rs761039038 0.00003
NM_173354.5(SIK1):c.862G>T (p.Ala288Ser) rs376891838 0.00003
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp) rs759268634 0.00003
NM_173354.5(SIK1):c.1046G>A (p.Arg349Gln) rs753524703 0.00002
NM_173354.5(SIK1):c.1168T>C (p.Cys390Arg) rs756613890 0.00002
NM_173354.5(SIK1):c.1210G>A (p.Glu404Lys) rs150822645 0.00002
NM_173354.5(SIK1):c.1235C>T (p.Ser412Leu) rs368079556 0.00002
NM_173354.5(SIK1):c.1279G>A (p.Gly427Arg) rs565748824 0.00002
NM_173354.5(SIK1):c.1295G>A (p.Arg432Gln) rs778947480 0.00002
NM_173354.5(SIK1):c.1312A>G (p.Ser438Gly) rs757099881 0.00002
NM_173354.5(SIK1):c.1634C>T (p.Ser545Leu) rs756332675 0.00002
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu) rs768025261 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_173354.5(SIK1):c.2114G>A (p.Gly705Glu) rs1283951144 0.00002
NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys) rs768404256 0.00002
NM_173354.5(SIK1):c.380G>A (p.Arg127Gln) rs111703795 0.00002
NM_173354.5(SIK1):c.436G>A (p.Val146Ile) rs762885522 0.00002
NM_173354.5(SIK1):c.1087C>T (p.Arg363Trp) rs755778593 0.00001
NM_173354.5(SIK1):c.1093C>T (p.Arg365Trp) rs1296194659 0.00001
NM_173354.5(SIK1):c.1105C>T (p.Leu369Phe) rs1396148473 0.00001
NM_173354.5(SIK1):c.1147C>G (p.Pro383Ala) rs746691059 0.00001
NM_173354.5(SIK1):c.1178C>T (p.Pro393Leu) rs375024211 0.00001
NM_173354.5(SIK1):c.1205A>C (p.Gln402Pro) rs1188686119 0.00001
NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg) rs746408860 0.00001
NM_173354.5(SIK1):c.1388C>G (p.Ser463Cys) rs1022873540 0.00001
NM_173354.5(SIK1):c.1415A>T (p.His472Leu) rs998623002 0.00001
NM_173354.5(SIK1):c.1424C>G (p.Ala475Gly) rs1163668338 0.00001
NM_173354.5(SIK1):c.1447C>T (p.Pro483Ser) rs781047363 0.00001
NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr) rs1225191975 0.00001
NM_173354.5(SIK1):c.1487C>T (p.Thr496Met) rs539292224 0.00001
NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu) rs763399015 0.00001
NM_173354.5(SIK1):c.1568C>T (p.Thr523Ile) rs1389573601 0.00001
NM_173354.5(SIK1):c.1580_1581del (p.Gln527fs) rs761030360 0.00001
NM_173354.5(SIK1):c.1690C>T (p.Leu564Phe) rs770574136 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_173354.5(SIK1):c.1918G>A (p.Gly640Ser) rs763499196 0.00001
NM_173354.5(SIK1):c.200A>G (p.Asn67Ser) rs770927120 0.00001
NM_173354.5(SIK1):c.2153C>T (p.Ala718Val) rs772137462 0.00001
NM_173354.5(SIK1):c.2188A>T (p.Thr730Ser) rs1410454168 0.00001
NM_173354.5(SIK1):c.274-11T>G rs768226889 0.00001
NM_173354.5(SIK1):c.301A>G (p.Ile101Val) rs1162511475 0.00001
NM_173354.5(SIK1):c.37G>A (p.Gly13Ser) rs758084408 0.00001
NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) rs780569607 0.00001
NM_173354.5(SIK1):c.409G>A (p.Val137Met) rs141382693 0.00001
NM_173354.5(SIK1):c.499+4C>T rs558742499 0.00001
NM_173354.5(SIK1):c.691A>G (p.Thr231Ala) rs745825829 0.00001
NM_173354.5(SIK1):c.817C>T (p.Arg273Trp) rs768230594 0.00001
NM_173354.5(SIK1):c.818G>A (p.Arg273Gln) rs377644840 0.00001
NM_173354.5(SIK1):c.826C>T (p.Arg276Trp) rs775013998 0.00001
NM_173354.5(SIK1):c.938A>G (p.Gln313Arg) rs1352926525 0.00001
NM_173354.5(SIK1):c.949G>A (p.Val317Met) rs752551158 0.00001
NC_000021.8:g.(?_44836622)_(44846058_?)dup
NC_000021.9:g.(?_43413515)_(43428122_?)dup
NM_173354.5(SIK1):c.1031G>A (p.Arg344Gln) rs778543025
NM_173354.5(SIK1):c.1036A>G (p.Lys346Glu)
NM_173354.5(SIK1):c.1045C>T (p.Arg349Trp)
NM_173354.5(SIK1):c.1051G>T (p.Ala351Ser)
NM_173354.5(SIK1):c.1057T>C (p.Cys353Arg)
NM_173354.5(SIK1):c.1063C>T (p.Arg355Cys) rs765513472
NM_173354.5(SIK1):c.1066C>T (p.Pro356Ser)
NM_173354.5(SIK1):c.1076C>G (p.Ala359Gly) rs748034105
NM_173354.5(SIK1):c.1078A>T (p.Arg360Trp) rs768488074
NM_173354.5(SIK1):c.1084C>T (p.Pro362Ser)
NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu) rs1006861899
NM_173354.5(SIK1):c.1094_1107del (p.Arg365fs)
NM_173354.5(SIK1):c.1097G>A (p.Ser366Asn)
NM_173354.5(SIK1):c.110A>C (p.Asn37Thr)
NM_173354.5(SIK1):c.1115T>G (p.Leu372Trp) rs2146471977
NM_173354.5(SIK1):c.1119+3G>A
NM_173354.5(SIK1):c.1119+6G>A
NM_173354.5(SIK1):c.1119+6G>C rs2081049173
NM_173354.5(SIK1):c.1120G>T (p.Val374Leu)
NM_173354.5(SIK1):c.1133G>T (p.Gly378Val) rs1435775681
NM_173354.5(SIK1):c.1135C>A (p.Leu379Ile) rs2081047896
NM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr) rs1555891146
NM_173354.5(SIK1):c.1139C>G (p.Ser380Cys) rs1555891146
NM_173354.5(SIK1):c.1143C>A (p.Thr381=) rs201261435
NM_173354.5(SIK1):c.1144G>C (p.Asp382His)
NM_173354.5(SIK1):c.114C>A (p.Phe38Leu) rs1359524179
NM_173354.5(SIK1):c.1151T>A (p.Phe384Tyr)
NM_173354.5(SIK1):c.1152C>G (p.Phe384Leu) rs2081047778
NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) rs545863305
NM_173354.5(SIK1):c.1159G>A (p.Ala387Thr) rs2146471466
NM_173354.5(SIK1):c.1160C>T (p.Ala387Val) rs2146471459
NM_173354.5(SIK1):c.1172C>G (p.Pro391Arg)
NM_173354.5(SIK1):c.1175A>G (p.Gln392Arg)
NM_173354.5(SIK1):c.1189G>A (p.Val397Met)
NM_173354.5(SIK1):c.118G>A (p.Val40Met) rs2081066065
NM_173354.5(SIK1):c.1193A>G (p.Gln398Arg)
NM_173354.5(SIK1):c.1198G>A (p.Val400Ile) rs746671842
NM_173354.5(SIK1):c.1201C>T (p.Leu401Phe) rs2146471356
NM_173354.5(SIK1):c.1208C>G (p.Ala403Gly) rs1601508504
NM_173354.5(SIK1):c.1216G>A (p.Asp406Asn) rs148319941
NM_173354.5(SIK1):c.1218C>G (p.Asp406Glu) rs1333644680
NM_173354.5(SIK1):c.1231A>G (p.Ser411Gly) rs2081047181
NM_173354.5(SIK1):c.1243T>C (p.Trp415Arg) rs2081047079
NM_173354.5(SIK1):c.1257_1258delinsTG (p.Pro420Ala)
NM_173354.5(SIK1):c.1258C>A (p.Pro420Thr)
NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) rs181611369
NM_173354.5(SIK1):c.1262T>C (p.Val421Ala)
NM_173354.5(SIK1):c.1276_1278del (p.Ser426del) rs1569015196
NM_173354.5(SIK1):c.1280G>C (p.Gly427Ala)
NM_173354.5(SIK1):c.1283T>G (p.Val428Gly) rs2081046255
NM_173354.5(SIK1):c.1298C>A (p.Pro433His)
NM_173354.5(SIK1):c.1304C>G (p.Ser435Cys) rs1485607281
NM_173354.5(SIK1):c.1304C>T (p.Ser435Phe) rs1485607281
NM_173354.5(SIK1):c.1319T>A (p.Leu440Gln)
NM_173354.5(SIK1):c.1330A>G (p.Ile444Val)
NM_173354.5(SIK1):c.1341G>C (p.Glu447Asp)
NM_173354.5(SIK1):c.1342G>A (p.Ala448Thr) rs1432976972
NM_173354.5(SIK1):c.1345A>G (p.Arg449Gly)
NM_173354.5(SIK1):c.134G>A (p.Arg45Gln) rs1400179035
NM_173354.5(SIK1):c.1351G>T (p.Gly451Trp)
NM_173354.5(SIK1):c.136C>G (p.His46Asp)
NM_173354.5(SIK1):c.1373A>G (p.Gln458Arg) rs2081045420
NM_173354.5(SIK1):c.1375G>A (p.Asp459Asn)
NM_173354.5(SIK1):c.1376_1381delinsCCTAGGAG (p.Asp459_Gln461delinsAlaTer) rs2081045356
NM_173354.5(SIK1):c.1393C>T (p.Pro465Ser) rs1569015116
NM_173354.5(SIK1):c.1394C>T (p.Pro465Leu)
NM_173354.5(SIK1):c.13T>A (p.Ser5Thr)
NM_173354.5(SIK1):c.1408C>T (p.Arg470Trp)
NM_173354.5(SIK1):c.140G>T (p.Arg47Leu) rs2081065975
NM_173354.5(SIK1):c.1418C>A (p.Thr473Asn) rs1555891084
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) rs2081044918
NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)
NM_173354.5(SIK1):c.1439G>A (p.Arg480His) rs1189551206
NM_173354.5(SIK1):c.1445C>T (p.Ser482Phe)
NM_173354.5(SIK1):c.1450C>A (p.Leu484Ile) rs757191457
NM_173354.5(SIK1):c.1455del (p.Ala486fs)
NM_173354.5(SIK1):c.1461A>G (p.Pro487=)
NM_173354.5(SIK1):c.1462+4A>G
NM_173354.5(SIK1):c.1463-11T>G
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.1463G>T (p.Cys488Phe)
NM_173354.5(SIK1):c.1471G>A (p.Val491Ile) rs140222760
NM_173354.5(SIK1):c.1477C>A (p.Pro493Thr)
NM_173354.5(SIK1):c.1478C>G (p.Pro493Arg)
NM_173354.5(SIK1):c.1481C>T (p.Ser494Phe) rs1569014834
NM_173354.5(SIK1):c.1495C>G (p.Pro499Ala)
NM_173354.5(SIK1):c.14C>T (p.Ser5Leu)
NM_173354.5(SIK1):c.1510A>C (p.Ser504Arg)
NM_173354.5(SIK1):c.1515dup (p.Asp506Ter) rs2081042986
NM_173354.5(SIK1):c.1532_1534del (p.Phe511del) rs766669273
NM_173354.5(SIK1):c.1535C>T (p.Ser512Phe) rs2081042854
NM_173354.5(SIK1):c.1538C>A (p.Ala513Glu) rs200402559
NM_173354.5(SIK1):c.1538C>G (p.Ala513Gly) rs200402559
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559
NM_173354.5(SIK1):c.1553C>G (p.Ala518Gly) rs142171557
NM_173354.5(SIK1):c.156+5G>T
NM_173354.5(SIK1):c.1571_1572delinsTC (p.Pro524Leu) rs2081042565
NM_173354.5(SIK1):c.1580A>C (p.Gln527Pro)
NM_173354.5(SIK1):c.158T>C (p.Val53Ala)
NM_173354.5(SIK1):c.1595C>T (p.Ala532Val) rs374747938
NM_173354.5(SIK1):c.1642G>A (p.Ala548Thr) rs761922703
NM_173354.5(SIK1):c.1643C>A (p.Ala548Asp) rs2146469839
NM_173354.5(SIK1):c.1661C>T (p.Ala554Val)
NM_173354.5(SIK1):c.1666G>C (p.Gly556Arg)
NM_173354.5(SIK1):c.1667G>A (p.Gly556Glu) rs2081041823
NM_173354.5(SIK1):c.1670G>A (p.Gly557Asp) rs372101645
NM_173354.5(SIK1):c.1679G>A (p.Gly560Glu)
NM_173354.5(SIK1):c.1682C>T (p.Ala561Val) rs1275515594
NM_173354.5(SIK1):c.1688T>C (p.Leu563Pro)
NM_173354.5(SIK1):c.1691T>C (p.Leu564Pro) rs746480237
NM_173354.5(SIK1):c.1693C>T (p.Pro565Ser) rs2081041634
NM_173354.5(SIK1):c.1697_1698delinsCT (p.Val566Ala)
NM_173354.5(SIK1):c.1721C>T (p.Ala574Val)
NM_173354.5(SIK1):c.1728C>G (p.Asp576Glu)
NM_173354.5(SIK1):c.1745-2A>G rs1569014372
NM_173354.5(SIK1):c.1748_1752dup (p.Ala585Ter)
NM_173354.5(SIK1):c.1754C>T (p.Ala585Val) rs2146469041
NM_173354.5(SIK1):c.1759C>T (p.Arg587Trp)
NM_173354.5(SIK1):c.1777A>T (p.Thr593Ser) rs2146469026
NM_173354.5(SIK1):c.1781C>T (p.Thr594Met) rs754963793
NM_173354.5(SIK1):c.1783C>T (p.Arg595Trp) rs372646769
NM_173354.5(SIK1):c.1784G>A (p.Arg595Gln) rs1163252803
NM_173354.5(SIK1):c.1789A>G (p.Lys597Glu)
NM_173354.5(SIK1):c.1793G>C (p.Gly598Ala)
NM_173354.5(SIK1):c.1795T>A (p.Phe599Ile)
NM_173354.5(SIK1):c.1799T>A (p.Leu600Gln)
NM_173354.5(SIK1):c.179A>C (p.Lys60Thr)
NM_173354.5(SIK1):c.1801G>A (p.Gly601Arg)
NM_173354.5(SIK1):c.1805T>C (p.Leu602Pro)
NM_173354.5(SIK1):c.1823T>C (p.Leu608Pro)
NM_173354.5(SIK1):c.1828C>T (p.Arg610Cys) rs773946657
NM_173354.5(SIK1):c.1829G>A (p.Arg610His)
NM_173354.5(SIK1):c.1829G>C (p.Arg610Pro)
NM_173354.5(SIK1):c.1829G>T (p.Arg610Leu) rs770153649
NM_173354.5(SIK1):c.1833G>T (p.Gln611His) rs2081038632
NM_173354.5(SIK1):c.1834G>A (p.Val612Met) rs1322191001
NM_173354.5(SIK1):c.1842G>C (p.Gln614His) rs2146468902
NM_173354.5(SIK1):c.1844_1845delinsTG (p.Ala615Val) rs2146468882
NM_173354.5(SIK1):c.184C>T (p.Arg62Ter)
NM_173354.5(SIK1):c.1852A>G (p.Ser618Gly)
NM_173354.5(SIK1):c.1855C>T (p.Arg619Trp)
NM_173354.5(SIK1):c.185G>T (p.Arg62Leu) rs776866938
NM_173354.5(SIK1):c.1871_1872delinsTT (p.Gly624Val) rs2146468803
NM_173354.5(SIK1):c.1877G>T (p.Ser626Ile) rs2081038153
NM_173354.5(SIK1):c.1885C>T (p.His629Tyr) rs2081038102
NM_173354.5(SIK1):c.1887C>A (p.His629Gln)
NM_173354.5(SIK1):c.1892C>G (p.Pro631Arg)
NM_173354.5(SIK1):c.1892C>T (p.Pro631Leu)
NM_173354.5(SIK1):c.1898A>G (p.Gln633Arg)
NM_173354.5(SIK1):c.1902C>G (p.Ser634Arg)
NM_173354.5(SIK1):c.1904C>G (p.Pro635Arg) rs779904079
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) rs779904079
NM_173354.5(SIK1):c.190G>A (p.Asp64Asn)
NM_173354.5(SIK1):c.1915G>C (p.Gly639Arg)
NM_173354.5(SIK1):c.1918G>T (p.Gly640Cys)
NM_173354.5(SIK1):c.1921G>A (p.Ala641Thr) rs368632078
NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser) rs368632078
NM_173354.5(SIK1):c.1922C>T (p.Ala641Val)
NM_173354.5(SIK1):c.1933C>T (p.Arg645Trp)
NM_173354.5(SIK1):c.1939G>A (p.Gly647Ser) rs1400394036
NM_173354.5(SIK1):c.1945A>C (p.Ser649Arg)
NM_173354.5(SIK1):c.1967A>G (p.Glu656Gly)
NM_173354.5(SIK1):c.1969C>G (p.Gln657Glu) rs2081037328
NM_173354.5(SIK1):c.1972C>T (p.Gln658Ter)
NM_173354.5(SIK1):c.1976+5G>T rs2146468569
NM_173354.5(SIK1):c.1981C>T (p.Leu661Phe) rs2146468156
NM_173354.5(SIK1):c.1988T>C (p.Leu663Ser) rs1285700273
NM_173354.5(SIK1):c.1989A>C (p.Leu663Phe) rs367955174
NM_173354.5(SIK1):c.1990C>T (p.Gln664Ter)
NM_173354.5(SIK1):c.1991A>G (p.Gln664Arg) rs2146468135
NM_173354.5(SIK1):c.1999C>A (p.Pro667Thr) rs892118949
NM_173354.5(SIK1):c.2000C>T (p.Pro667Leu) rs553014547
NM_173354.5(SIK1):c.2004_2016del (p.Ala670fs) rs2081035616
NM_173354.5(SIK1):c.2014G>C (p.Gly672Arg) rs751934560
NM_173354.5(SIK1):c.2026G>A (p.Ala676Thr)
NM_173354.5(SIK1):c.2036C>T (p.Pro679Leu)
NM_173354.5(SIK1):c.2038G>A (p.Ala680Thr) rs1223738587
NM_173354.5(SIK1):c.2047C>T (p.Pro683Ser) rs1436513514
NM_173354.5(SIK1):c.2052T>A (p.Phe684Leu) rs929370860
NM_173354.5(SIK1):c.2052T>G (p.Phe684Leu) rs929370860
NM_173354.5(SIK1):c.2053G>A (p.Val685Met)
NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)
NM_173354.5(SIK1):c.2060C>T (p.Ala687Val) rs1303657487
NM_173354.5(SIK1):c.2062C>G (p.Pro688Ala) rs549619122
NM_173354.5(SIK1):c.2062C>T (p.Pro688Ser)
NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser) rs772047499
NM_173354.5(SIK1):c.206del (p.Glu69fs) rs2081064737
NM_173354.5(SIK1):c.2074C>G (p.Pro692Ala) rs1569013982
NM_173354.5(SIK1):c.2083G>C (p.Ala695Pro)
NM_173354.5(SIK1):c.2084C>T (p.Ala695Val) rs2146467891
NM_173354.5(SIK1):c.208A>G (p.Lys70Glu)
NM_173354.5(SIK1):c.2099C>T (p.Thr700Ile)
NM_173354.5(SIK1):c.209A>G (p.Lys70Arg) rs2146476029
NM_173354.5(SIK1):c.2111C>T (p.Ser704Leu) rs1217587469
NM_173354.5(SIK1):c.2117T>A (p.Leu706His)
NM_173354.5(SIK1):c.2123T>C (p.Leu708Pro)
NM_173354.5(SIK1):c.2126T>C (p.Leu709Pro)
NM_173354.5(SIK1):c.2129C>T (p.Pro710Leu)
NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg) rs1601506378
NM_173354.5(SIK1):c.2135C>A (p.Pro712Gln)
NM_173354.5(SIK1):c.2137C>G (p.Leu713Val) rs2146467751
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2161G>A (p.Val721Met) rs1049188125
NM_173354.5(SIK1):c.2161G>T (p.Val721Leu) rs1049188125
NM_173354.5(SIK1):c.2165C>A (p.Ala722Asp) rs2081034398
NM_173354.5(SIK1):c.2169_2171del (p.Ala725del)
NM_173354.5(SIK1):c.2173G>A (p.Ala725Thr)
NM_173354.5(SIK1):c.2179C>T (p.Leu727Phe) rs2081034279
NM_173354.5(SIK1):c.2189C>T (p.Thr730Ile)
NM_173354.5(SIK1):c.2191C>T (p.His731Tyr) rs1555890879
NM_173354.5(SIK1):c.2195T>G (p.Leu732Arg)
NM_173354.5(SIK1):c.2200A>C (p.Ile734Leu)
NM_173354.5(SIK1):c.2230G>A (p.Val744Met)
NM_173354.5(SIK1):c.2230G>C (p.Val744Leu)
NM_173354.5(SIK1):c.223G>A (p.Val75Ile) rs1041137216
NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu) rs375516507
NM_173354.5(SIK1):c.2255T>C (p.Leu752Pro)
NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser) rs1601506211
NM_173354.5(SIK1):c.2258C>G (p.Ala753Gly)
NM_173354.5(SIK1):c.2258C>T (p.Ala753Val) rs1444363139
NM_173354.5(SIK1):c.2263G>C (p.Gly755Arg)
NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser) rs2081033603
NM_173354.5(SIK1):c.2279G>A (p.Gly760Glu)
NM_173354.5(SIK1):c.2302A>G (p.Met768Val)
NM_173354.5(SIK1):c.2320T>C (p.Cys774Arg) rs756377602
NM_173354.5(SIK1):c.2321G>C (p.Cys774Ser) rs2146467405
NM_173354.5(SIK1):c.232A>T (p.Met78Leu) rs1601511650
NM_173354.5(SIK1):c.233T>C (p.Met78Thr) rs1569017480
NM_173354.5(SIK1):c.256A>G (p.Ile86Val)
NM_173354.5(SIK1):c.273+4A>C
NM_173354.5(SIK1):c.273+4A>T rs2146475925
NM_173354.5(SIK1):c.273+6G>C rs1352249378
NM_173354.5(SIK1):c.274-3T>A rs1398334601
NM_173354.5(SIK1):c.288G>C (p.Lys96Asn)
NM_173354.5(SIK1):c.28G>T (p.Asp10Tyr)
NM_173354.5(SIK1):c.2T>C (p.Met1Thr)
NM_173354.5(SIK1):c.31C>T (p.Pro11Ser) rs2146476567
NM_173354.5(SIK1):c.326G>T (p.Gly109Val)
NM_173354.5(SIK1):c.32C>G (p.Pro11Arg) rs1354502264
NM_173354.5(SIK1):c.331A>G (p.Met111Val) rs374251012
NM_173354.5(SIK1):c.338-5_338-3del rs752999879
NM_173354.5(SIK1):c.339T>G (p.Asp113Glu) rs2081057328
NM_173354.5(SIK1):c.353A>T (p.Asn118Ile)
NM_173354.5(SIK1):c.368A>T (p.Glu123Val) rs2081057190
NM_173354.5(SIK1):c.369G>C (p.Glu123Asp) rs2146474202
NM_173354.5(SIK1):c.371A>G (p.Asn124Ser) rs2146474198
NM_173354.5(SIK1):c.372C>A (p.Asn124Lys) rs776158971
NM_173354.5(SIK1):c.372_374dup (p.Asn124_Glu125insAsp) rs2146474183
NM_173354.5(SIK1):c.376G>T (p.Ala126Ser)
NM_173354.5(SIK1):c.386A>C (p.Lys129Thr) rs370702184
NM_173354.5(SIK1):c.38G>A (p.Gly13Asp)
NM_173354.5(SIK1):c.392G>C (p.Trp131Ser)
NM_173354.5(SIK1):c.42G>C (p.Gln14His)
NM_173354.5(SIK1):c.43G>T (p.Gly15Cys)
NM_173354.5(SIK1):c.443G>C (p.Arg148Pro) rs2146474084
NM_173354.5(SIK1):c.445G>A (p.Asp149Asn)
NM_173354.5(SIK1):c.462C>A (p.Asn154Lys)
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_173354.5(SIK1):c.46C>G (p.Gln16Glu) rs1317188418
NM_173354.5(SIK1):c.47A>G (p.Gln16Arg)
NM_173354.5(SIK1):c.499+4C>G
NM_173354.5(SIK1):c.499+4del
NM_173354.5(SIK1):c.49G>T (p.Gly17Cys)
NM_173354.5(SIK1):c.500-2A>G
NM_173354.5(SIK1):c.521A>G (p.Tyr174Cys)
NM_173354.5(SIK1):c.521A>T (p.Tyr174Phe) rs1243837400
NM_173354.5(SIK1):c.524A>C (p.Lys175Thr)
NM_173354.5(SIK1):c.549G>T (p.Trp183Cys) rs748074366
NM_173354.5(SIK1):c.558C>A (p.Ser186Arg)
NM_173354.5(SIK1):c.562C>T (p.Pro188Ser)
NM_173354.5(SIK1):c.563C>G (p.Pro188Arg) rs754959423
NM_173354.5(SIK1):c.580G>A (p.Val194Ile) rs367965361
NM_173354.5(SIK1):c.593A>G (p.Lys198Arg) rs2146473675
NM_173354.5(SIK1):c.599A>G (p.Tyr200Cys) rs1601509903
NM_173354.5(SIK1):c.5T>G (p.Val2Gly) rs749382226
NM_173354.5(SIK1):c.620T>C (p.Ile207Thr) rs1170227622
NM_173354.5(SIK1):c.624+3A>G
NM_173354.5(SIK1):c.624+6A>G rs2146473637
NM_173354.5(SIK1):c.634G>A (p.Val212Met)
NM_173354.5(SIK1):c.646G>A (p.Val216Ile) rs142728625
NM_173354.5(SIK1):c.647T>C (p.Val216Ala)
NM_173354.5(SIK1):c.673G>A (p.Asp225Asn)
NM_173354.5(SIK1):c.673G>C (p.Asp225His) rs768610335
NM_173354.5(SIK1):c.674A>G (p.Asp225Gly)
NM_173354.5(SIK1):c.688C>A (p.Pro230Thr) rs1163763920
NM_173354.5(SIK1):c.692C>A (p.Thr231Lys)
NM_173354.5(SIK1):c.692C>T (p.Thr231Met)
NM_173354.5(SIK1):c.698G>A (p.Arg233Lys) rs2146473283
NM_173354.5(SIK1):c.700C>T (p.Gln234Ter) rs2146473267
NM_173354.5(SIK1):c.709C>G (p.Leu237Val) rs1555891321
NM_173354.5(SIK1):c.70G>C (p.Val24Leu)
NM_173354.5(SIK1):c.710T>C (p.Leu237Pro) rs929465231
NM_173354.5(SIK1):c.73G>A (p.Gly25Ser) rs2146476449
NM_173354.5(SIK1):c.742T>C (p.Ser248Pro)
NM_173354.5(SIK1):c.748G>A (p.Asp250Asn) rs1601509582
NM_173354.5(SIK1):c.749-22_749-14del
NM_173354.5(SIK1):c.749-7T>A rs2146472861
NM_173354.5(SIK1):c.74G>T (p.Gly25Val) rs2146476447
NM_173354.5(SIK1):c.753T>G (p.Cys251Trp)
NM_173354.5(SIK1):c.758G>A (p.Ser253Asn)
NM_173354.5(SIK1):c.767G>A (p.Arg256His)
NM_173354.5(SIK1):c.769C>T (p.Arg257Cys) rs778169446
NM_173354.5(SIK1):c.76T>G (p.Phe26Val) rs2081066253
NM_173354.5(SIK1):c.770G>A (p.Arg257His) rs758756558
NM_173354.5(SIK1):c.779T>C (p.Val260Ala) rs2081052018
NM_173354.5(SIK1):c.796C>T (p.Arg266Cys) rs760635907
NM_173354.5(SIK1):c.800T>C (p.Ile267Thr) rs2081051869
NM_173354.5(SIK1):c.803C>A (p.Thr268Asn) rs1339466208
NM_173354.5(SIK1):c.805A>G (p.Ile269Val) rs767335982
NM_173354.5(SIK1):c.817C>G (p.Arg273Gly) rs768230594
NM_173354.5(SIK1):c.833T>C (p.Met278Thr)
NM_173354.5(SIK1):c.835C>G (p.Arg279Gly) rs778203309
NM_173354.5(SIK1):c.836G>A (p.Arg279Gln)
NM_173354.5(SIK1):c.845C>A (p.Pro282His)
NM_173354.5(SIK1):c.849C>G (p.Cys283Trp) rs528484611
NM_173354.5(SIK1):c.854C>A (p.Pro285Gln) rs567695572
NM_173354.5(SIK1):c.857G>C (p.Gly286Ala)
NM_173354.5(SIK1):c.860C>T (p.Pro287Leu) rs1430685368
NM_173354.5(SIK1):c.862G>A (p.Ala288Thr) rs376891838
NM_173354.5(SIK1):c.866G>C (p.Cys289Ser)
NM_173354.5(SIK1):c.871G>C (p.Ala291Pro) rs201889040
NM_173354.5(SIK1):c.871G>T (p.Ala291Ser)
NM_173354.5(SIK1):c.901C>G (p.Leu301Val)
NM_173354.5(SIK1):c.908A>T (p.Asp303Val)
NM_173354.5(SIK1):c.910T>C (p.Tyr304His) rs373962243
NM_173354.5(SIK1):c.913G>A (p.Asp305Asn) rs144214218
NM_173354.5(SIK1):c.913G>C (p.Asp305His) rs144214218
NM_173354.5(SIK1):c.914A>G (p.Asp305Gly) rs2146472509
NM_173354.5(SIK1):c.923C>T (p.Ala308Val) rs1363272609
NM_173354.5(SIK1):c.953A>C (p.Asp318Ala) rs2081050811
NM_173354.5(SIK1):c.956G>A (p.Arg319Gln) rs766038492
NM_173354.5(SIK1):c.967G>A (p.Val323Met)
NM_173354.5(SIK1):c.988del (p.Ser330fs)
NM_173354.5(SIK1):c.9_11del (p.Ile3del) rs2146476618

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