ClinVar Miner

List of variants reported as likely benign for Developmental and epileptic encephalopathy, 30

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 417
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244 0.00198
NM_173354.5(SIK1):c.859_861del (p.Pro287del) rs374476526 0.00195
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493 0.00172
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu) rs146018004 0.00118
NM_173354.5(SIK1):c.881C>T (p.Ala294Val) rs141114345 0.00077
NM_173354.5(SIK1):c.1404G>A (p.Thr468=) rs147101451 0.00035
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_173354.5(SIK1):c.2175G>A (p.Ala725=) rs372469113 0.00029
NM_173354.5(SIK1):c.2148C>T (p.Thr716=) rs776741814 0.00026
NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr) rs150241738 0.00026
NM_173354.5(SIK1):c.2226C>T (p.Pro742=) rs199872172 0.00022
NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly) rs756377602 0.00022
NM_173354.5(SIK1):c.748+7C>T rs200315286 0.00022
NM_173354.5(SIK1):c.1086G>T (p.Pro362=) rs139979941 0.00019
NM_173354.5(SIK1):c.1246-5C>T rs371389145 0.00019
NM_173354.5(SIK1):c.1926C>T (p.Ala642=) rs761311570 0.00018
NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu) rs776595772 0.00018
NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu) rs200481902 0.00017
NM_173354.5(SIK1):c.1198G>T (p.Val400Phe) rs746671842 0.00013
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) rs528905001 0.00011
NM_173354.5(SIK1):c.1143C>T (p.Thr381=) rs201261435 0.00010
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512 0.00010
NM_173354.5(SIK1):c.1594G>A (p.Ala532Thr) rs761551726 0.00010
NM_173354.5(SIK1):c.1623C>T (p.Pro541=) rs377361018 0.00010
NM_173354.5(SIK1):c.1875G>T (p.Leu625=) rs376554812 0.00010
NM_173354.5(SIK1):c.2208C>T (p.Thr736=) rs377024605 0.00010
NM_173354.5(SIK1):c.973-19C>T rs372086652 0.00010
NM_173354.5(SIK1):c.1069G>A (p.Gly357Arg) rs771103431 0.00009
NM_173354.5(SIK1):c.807C>T (p.Ile269=) rs761649307 0.00009
NM_173354.5(SIK1):c.1120-16C>T rs149663047 0.00008
NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu) rs181611369 0.00008
NM_173354.5(SIK1):c.808G>A (p.Ala270Thr) rs571627997 0.00008
NM_173354.5(SIK1):c.91C>G (p.Arg31Gly) rs147781218 0.00008
NM_173354.5(SIK1):c.1386G>A (p.Glu462=) rs772722600 0.00007
NM_173354.5(SIK1):c.1641C>T (p.Ser547=) rs767618062 0.00007
NM_173354.5(SIK1):c.2109G>A (p.Thr703=) rs752076447 0.00007
NM_173354.5(SIK1):c.1137T>C (p.Leu379=) rs769697033 0.00006
NM_173354.5(SIK1):c.1245+16G>A rs766185392 0.00006
NM_173354.5(SIK1):c.1356G>A (p.Pro452=) rs762697666 0.00006
NM_173354.5(SIK1):c.1744+7C>G rs1348743249 0.00006
NM_173354.5(SIK1):c.1920C>T (p.Gly640=) rs372590689 0.00006
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061 0.00006
NM_173354.5(SIK1):c.207G>A (p.Glu69=) rs201818967 0.00006
NM_173354.5(SIK1):c.2121G>A (p.Pro707=) rs374313941 0.00006
NM_173354.5(SIK1):c.27G>A (p.Ala9=) rs757161757 0.00006
NM_173354.5(SIK1):c.306C>T (p.Val102=) rs201331473 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.972+15A>G rs769126173 0.00006
NM_173354.5(SIK1):c.999C>T (p.His333=) rs758222972 0.00006
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_173354.5(SIK1):c.1120-9C>T rs368589807 0.00005
NM_173354.5(SIK1):c.1458G>A (p.Ala486=) rs147572735 0.00005
NM_173354.5(SIK1):c.1463-19C>T rs200243090 0.00005
NM_173354.5(SIK1):c.1628T>C (p.Leu543Pro) rs144694596 0.00005
NM_173354.5(SIK1):c.2013C>T (p.Pro671=) rs757730365 0.00005
NM_173354.5(SIK1):c.2151C>T (p.Gly717=) rs532529872 0.00005
NM_173354.5(SIK1):c.338-9G>T rs763842347 0.00005
NM_173354.5(SIK1):c.642G>A (p.Leu214=) rs761176948 0.00005
NM_173354.5(SIK1):c.880G>A (p.Ala294Thr) rs776214001 0.00005
NM_173354.5(SIK1):c.976C>T (p.Leu326=) rs776898340 0.00005
NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu) rs757476600 0.00004
NM_173354.5(SIK1):c.1197C>T (p.Ser399=) rs139566516 0.00004
NM_173354.5(SIK1):c.1745-20C>T rs758494600 0.00004
NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln) rs372399294 0.00004
NM_173354.5(SIK1):c.1887C>T (p.His629=) rs771569126 0.00004
NM_173354.5(SIK1):c.2130G>A (p.Pro710=) rs1425273742 0.00004
NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys) rs754231467 0.00004
NM_173354.5(SIK1):c.338-13T>G rs774201798 0.00004
NM_173354.5(SIK1):c.456C>T (p.Thr152=) rs776186797 0.00004
NM_173354.5(SIK1):c.861C>T (p.Pro287=) rs142816600 0.00004
NM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys) rs754872537 0.00003
NM_173354.5(SIK1):c.1059C>T (p.Cys353=) rs763345874 0.00003
NM_173354.5(SIK1):c.1064G>A (p.Arg355His) rs759838082 0.00003
NM_173354.5(SIK1):c.1120-8G>A rs375763167 0.00003
NM_173354.5(SIK1):c.1246-4G>A rs368813444 0.00003
NM_173354.5(SIK1):c.1299C>T (p.Pro433=) rs749291191 0.00003
NM_173354.5(SIK1):c.1309A>G (p.Ser437Gly) rs151326084 0.00003
NM_173354.5(SIK1):c.1380G>A (p.Thr460=) rs373572087 0.00003
NM_173354.5(SIK1):c.1416C>T (p.His472=) rs1555891087 0.00003
NM_173354.5(SIK1):c.1422G>A (p.Leu474=) rs1391745784 0.00003
NM_173354.5(SIK1):c.1462+13G>A rs370082383 0.00003
NM_173354.5(SIK1):c.1593C>T (p.Gly531=) rs767538729 0.00003
NM_173354.5(SIK1):c.1725G>A (p.Ser575=) rs547895705 0.00003
NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile) rs751643088 0.00003
NM_173354.5(SIK1):c.1744+9C>T rs764319720 0.00003
NM_173354.5(SIK1):c.1917C>T (p.Gly639=) rs751294210 0.00003
NM_173354.5(SIK1):c.2088G>A (p.Pro696=) rs376915289 0.00003
NM_173354.5(SIK1):c.2091C>T (p.Leu697=) rs779483942 0.00003
NM_173354.5(SIK1):c.2154G>A (p.Ala718=) rs529008487 0.00003
NM_173354.5(SIK1):c.2217C>T (p.Thr739=) rs112091900 0.00003
NM_173354.5(SIK1):c.303C>T (p.Ile101=) rs149932987 0.00003
NM_173354.5(SIK1):c.378G>A (p.Ala126=) rs770396993 0.00003
NM_173354.5(SIK1):c.408C>T (p.Ala136=) rs150770510 0.00003
NM_173354.5(SIK1):c.435C>T (p.Ile145=) rs200536006 0.00003
NM_173354.5(SIK1):c.624+18G>A rs369279240 0.00003
NM_173354.5(SIK1):c.705G>A (p.Arg235=) rs752187558 0.00003
NM_173354.5(SIK1):c.748+8G>A rs201327272 0.00003
NM_173354.5(SIK1):c.750C>G (p.Asp250Glu) rs757740944 0.00003
NM_173354.5(SIK1):c.879C>T (p.Ser293=) rs138160311 0.00003
NM_173354.5(SIK1):c.1068C>T (p.Pro356=) rs776984333 0.00002
NM_173354.5(SIK1):c.1246-7A>G rs199838835 0.00002
NM_173354.5(SIK1):c.1539G>A (p.Ala513=) rs370071213 0.00002
NM_173354.5(SIK1):c.1698C>A (p.Val566=) rs777284773 0.00002
NM_173354.5(SIK1):c.1734A>C (p.Ser578=) rs757586795 0.00002
NM_173354.5(SIK1):c.1744+13C>T rs371523952 0.00002
NM_173354.5(SIK1):c.1746G>T (p.Gly582=) rs527940225 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_173354.5(SIK1):c.2193C>T (p.His731=) rs745398672 0.00002
NM_173354.5(SIK1):c.300C>T (p.Tyr100=) rs147156765 0.00002
NM_173354.5(SIK1):c.338-15T>C rs761757716 0.00002
NM_173354.5(SIK1):c.379C>T (p.Arg127Trp) rs748660297 0.00002
NM_173354.5(SIK1):c.499+14G>A rs780514021 0.00002
NM_173354.5(SIK1):c.690G>A (p.Pro230=) rs769785714 0.00002
NM_173354.5(SIK1):c.748+18G>A rs540350444 0.00002
NM_173354.5(SIK1):c.748+9T>A rs532539559 0.00002
NM_173354.5(SIK1):c.789C>T (p.Pro263=) rs755259558 0.00002
NM_173354.5(SIK1):c.798C>T (p.Arg266=) rs773060642 0.00002
NM_173354.5(SIK1):c.870C>T (p.Pro290=) rs768137586 0.00002
NM_173354.5(SIK1):c.984C>T (p.Asn328=) rs771156923 0.00002
NM_173354.5(SIK1):c.114C>T (p.Phe38=) rs1359524179 0.00001
NM_173354.5(SIK1):c.1173G>A (p.Pro391=) rs751767557 0.00001
NM_173354.5(SIK1):c.1200C>T (p.Val400=) rs1417285211 0.00001
NM_173354.5(SIK1):c.1236G>A (p.Ser412=) rs374850060 0.00001
NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu) rs1451348781 0.00001
NM_173354.5(SIK1):c.1395C>T (p.Pro465=) rs1260406479 0.00001
NM_173354.5(SIK1):c.1518C>T (p.Asp506=) rs151161967 0.00001
NM_173354.5(SIK1):c.1551C>T (p.Pro517=) rs774252516 0.00001
NM_173354.5(SIK1):c.1620G>A (p.Ser540=) rs746537219 0.00001
NM_173354.5(SIK1):c.1722G>A (p.Ala574=) rs756498556 0.00001
NM_173354.5(SIK1):c.2139C>T (p.Leu713=) rs1250236920 0.00001
NM_173354.5(SIK1):c.2202T>C (p.Ile734=) rs368699653 0.00001
NM_173354.5(SIK1):c.345G>A (p.Leu115=) rs775279592 0.00001
NM_173354.5(SIK1):c.354C>T (p.Asn118=) rs769373966 0.00001
NM_173354.5(SIK1):c.372C>T (p.Asn124=) rs776158971 0.00001
NM_173354.5(SIK1):c.396A>G (p.Gln132=) rs139121264 0.00001
NM_173354.5(SIK1):c.405G>A (p.Ser135=) rs756318531 0.00001
NM_173354.5(SIK1):c.423C>T (p.His141=) rs757318904 0.00001
NM_173354.5(SIK1):c.500-18T>G rs544724581 0.00001
NM_173354.5(SIK1):c.624+13T>C rs374653662 0.00001
NM_173354.5(SIK1):c.625-5A>G rs751277878 0.00001
NM_173354.5(SIK1):c.627C>T (p.Ser209=) rs200883333 0.00001
NM_173354.5(SIK1):c.672C>T (p.Phe224=) rs774674384 0.00001
NM_173354.5(SIK1):c.1050T>C (p.Asn350=) rs766069194
NM_173354.5(SIK1):c.1086G>A (p.Pro362=) rs139979941
NM_173354.5(SIK1):c.1089G>A (p.Arg363=)
NM_173354.5(SIK1):c.1095G>A (p.Arg365=)
NM_173354.5(SIK1):c.1101G>A (p.Ser367=) rs751045541
NM_173354.5(SIK1):c.1119+11G>A
NM_173354.5(SIK1):c.1119+13A>C rs2146471945
NM_173354.5(SIK1):c.1119+14G>A rs1194217813
NM_173354.5(SIK1):c.1119+19C>T
NM_173354.5(SIK1):c.1119+20T>A
NM_173354.5(SIK1):c.1119+5_1119+6dup rs750333204
NM_173354.5(SIK1):c.1120-15G>A
NM_173354.5(SIK1):c.1120-4C>G rs761968823
NM_173354.5(SIK1):c.1144G>A (p.Asp382Asn) rs770570987
NM_173354.5(SIK1):c.1149T>C (p.Pro383=)
NM_173354.5(SIK1):c.1155A>C (p.Arg385=) rs2081047729
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.1179G>T (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.117G>C (p.Ala39=) rs1555891652
NM_173354.5(SIK1):c.1191G>C (p.Val397=) rs1054134213
NM_173354.5(SIK1):c.1209C>T (p.Ala403=)
NM_173354.5(SIK1):c.1230G>A (p.Gln410=)
NM_173354.5(SIK1):c.123G>A (p.Val41=) rs2146476379
NM_173354.5(SIK1):c.1245+16G>T
NM_173354.5(SIK1):c.1245+19T>A rs2146471245
NM_173354.5(SIK1):c.1245+20G>A
NM_173354.5(SIK1):c.1246-10T>G
NM_173354.5(SIK1):c.1246-15G>A
NM_173354.5(SIK1):c.1246-17G>C rs753969379
NM_173354.5(SIK1):c.1246-17G>T
NM_173354.5(SIK1):c.1246-9C>G
NM_173354.5(SIK1):c.1260G>C (p.Pro420=) rs776487308
NM_173354.5(SIK1):c.1275C>T (p.Cys425=) rs1297686739
NM_173354.5(SIK1):c.1300G>A (p.Val434Met) rs111780079
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) rs111780079
NM_173354.5(SIK1):c.1302G>T (p.Val434=)
NM_173354.5(SIK1):c.1338G>A (p.Glu446=) rs1601508239
NM_173354.5(SIK1):c.1353G>A (p.Gly451=) rs2146470893
NM_173354.5(SIK1):c.1362A>G (p.Leu454=)
NM_173354.5(SIK1):c.1368G>A (p.Glu456=) rs1555891099
NM_173354.5(SIK1):c.1371G>A (p.Glu457=)
NM_173354.5(SIK1):c.1398C>T (p.Ser466=)
NM_173354.5(SIK1):c.1400_1401delinsTT (p.Ser467Ile) rs2146470803
NM_173354.5(SIK1):c.1410G>C (p.Arg470=) rs1032796020
NM_173354.5(SIK1):c.1413G>A (p.Arg471=) rs2146470778
NM_173354.5(SIK1):c.1419C>T (p.Thr473=) rs1320930912
NM_173354.5(SIK1):c.1424C>T (p.Ala475Val) rs1163668338
NM_173354.5(SIK1):c.1425C>G (p.Ala475=)
NM_173354.5(SIK1):c.1425C>T (p.Ala475=)
NM_173354.5(SIK1):c.1434C>T (p.Ser478=) rs2146470699
NM_173354.5(SIK1):c.1449A>G (p.Pro483=)
NM_173354.5(SIK1):c.1449A>T (p.Pro483=) rs1251367400
NM_173354.5(SIK1):c.1462+12C>G
NM_173354.5(SIK1):c.1462+12C>T
NM_173354.5(SIK1):c.1462+18C>T rs1038464471
NM_173354.5(SIK1):c.1462+19C>T rs2146470601
NM_173354.5(SIK1):c.1462+20C>G rs2146470598
NM_173354.5(SIK1):c.1462+9C>A rs1324778844
NM_173354.5(SIK1):c.1462T>G (p.Cys488Gly) rs2081044642
NM_173354.5(SIK1):c.1463-10C>A
NM_173354.5(SIK1):c.1463-10C>T rs75613088
NM_173354.5(SIK1):c.1463-15G>A rs377350792
NM_173354.5(SIK1):c.1463-15G>C rs377350792
NM_173354.5(SIK1):c.1463-27_1463-19dup rs755251328
NM_173354.5(SIK1):c.1463-5C>A rs375664122
NM_173354.5(SIK1):c.1463-5C>G rs375664122
NM_173354.5(SIK1):c.1463-5C>T rs375664122
NM_173354.5(SIK1):c.1463-6C>A rs148529513
NM_173354.5(SIK1):c.1463-6C>G rs148529513
NM_173354.5(SIK1):c.1463-6C>T rs148529513
NM_173354.5(SIK1):c.1463-7C>G rs142866662
NM_173354.5(SIK1):c.1463-8C>T rs2146470344
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_173354.5(SIK1):c.1475C>T (p.Ser492Phe) rs2081043276
NM_173354.5(SIK1):c.1479C>G (p.Pro493=) rs778877054
NM_173354.5(SIK1):c.1482C>T (p.Ser494=) rs1555891046
NM_173354.5(SIK1):c.1515T>C (p.Ser505=) rs753009708
NM_173354.5(SIK1):c.1530C>G (p.Thr510=) rs759750280
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559
NM_173354.5(SIK1):c.1552G>A (p.Ala518Thr) rs367547841
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro) rs367547841
NM_173354.5(SIK1):c.1554G>A (p.Ala518=) rs34487963
NM_173354.5(SIK1):c.156+10G>A rs1601511858
NM_173354.5(SIK1):c.156+13G>A rs1193250951
NM_173354.5(SIK1):c.156+20C>T
NM_173354.5(SIK1):c.156+7G>A
NM_173354.5(SIK1):c.1563T>C (p.Ser521=) rs2146470093
NM_173354.5(SIK1):c.157-10A>G rs1237472803
NM_173354.5(SIK1):c.157-20T>A
NM_173354.5(SIK1):c.157-5del
NM_173354.5(SIK1):c.157-9_157-8dup rs753580895
NM_173354.5(SIK1):c.1572G>A (p.Pro524=)
NM_173354.5(SIK1):c.1581G>A (p.Gln527=) rs1187631793
NM_173354.5(SIK1):c.1582G>A (p.Gly528Arg)
NM_173354.5(SIK1):c.1587G>A (p.Leu529=) rs1460477463
NM_173354.5(SIK1):c.15G>C (p.Ser5=)
NM_173354.5(SIK1):c.1601C>T (p.Ser534Phe) rs34704670
NM_173354.5(SIK1):c.1605G>T (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.1635G>A (p.Ser545=) rs113076434
NM_173354.5(SIK1):c.1635G>T (p.Ser545=) rs113076434
NM_173354.5(SIK1):c.1668G>T (p.Gly556=)
NM_173354.5(SIK1):c.1692C>T (p.Leu564=)
NM_173354.5(SIK1):c.1695T>C (p.Pro565=)
NM_173354.5(SIK1):c.1744+10G>C
NM_173354.5(SIK1):c.1761G>A (p.Arg587=)
NM_173354.5(SIK1):c.1770G>A (p.Leu590=) rs1601507060
NM_173354.5(SIK1):c.1788C>T (p.Thr596=)
NM_173354.5(SIK1):c.1830C>T (p.Arg610=) rs1043309128
NM_173354.5(SIK1):c.1869C>A (p.Gly623=)
NM_173354.5(SIK1):c.1869C>T (p.Gly623=) rs369496134
NM_173354.5(SIK1):c.1908C>T (p.Gly636=)
NM_173354.5(SIK1):c.1909C>T (p.Leu637=)
NM_173354.5(SIK1):c.1911G>A (p.Leu637=) rs2081037813
NM_173354.5(SIK1):c.1914C>T (p.His638=) rs781091892
NM_173354.5(SIK1):c.1923A>G (p.Ala641=)
NM_173354.5(SIK1):c.1962G>A (p.Val654=)
NM_173354.5(SIK1):c.1976+11C>T
NM_173354.5(SIK1):c.1976+12C>G
NM_173354.5(SIK1):c.1976+13C>T
NM_173354.5(SIK1):c.1976+15C>A
NM_173354.5(SIK1):c.1976+15C>G
NM_173354.5(SIK1):c.1976+15C>T rs200878902
NM_173354.5(SIK1):c.1976+16G>A
NM_173354.5(SIK1):c.1976+19C>T
NM_173354.5(SIK1):c.1976+6dup
NM_173354.5(SIK1):c.1976+8C>T rs2146468560
NM_173354.5(SIK1):c.1977-13T>C
NM_173354.5(SIK1):c.1977-14C>T rs1009274600
NM_173354.5(SIK1):c.1977-14del rs2146468167
NM_173354.5(SIK1):c.1977-16T>G
NM_173354.5(SIK1):c.198C>T (p.Ser66=)
NM_173354.5(SIK1):c.1992G>A (p.Gln664=) rs1268323259
NM_173354.5(SIK1):c.2001G>A (p.Pro667=) rs778549988
NM_173354.5(SIK1):c.2004C>T (p.Ala668=) rs1434599598
NM_173354.5(SIK1):c.2013C>A (p.Pro671=) rs757730365
NM_173354.5(SIK1):c.2013C>G (p.Pro671=) rs757730365
NM_173354.5(SIK1):c.2016C>G (p.Gly672=)
NM_173354.5(SIK1):c.2037G>A (p.Pro679=) rs943521135
NM_173354.5(SIK1):c.204G>A (p.Leu68=) rs144182369
NM_173354.5(SIK1):c.2052T>C (p.Phe684=) rs929370860
NM_173354.5(SIK1):c.2058C>T (p.Ile686=) rs1434388095
NM_173354.5(SIK1):c.2073C>A (p.Gly691=) rs2146467907
NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser) rs778637849
NM_173354.5(SIK1):c.2093C>T (p.Pro698Leu) rs757755073
NM_173354.5(SIK1):c.2112G>C (p.Ser704=) rs773124142
NM_173354.5(SIK1):c.2115G>A (p.Gly705=)
NM_173354.5(SIK1):c.2118C>T (p.Leu706=) rs550744437
NM_173354.5(SIK1):c.211dup (p.Ile71fs) rs2146476025
NM_173354.5(SIK1):c.2127G>A (p.Leu709=) rs1173555669
NM_173354.5(SIK1):c.2133C>G (p.Pro711=) rs2146467763
NM_173354.5(SIK1):c.2148C>G (p.Thr716=)
NM_173354.5(SIK1):c.2151C>G (p.Gly717=) rs532529872
NM_173354.5(SIK1):c.2160G>A (p.Pro720=)
NM_173354.5(SIK1):c.2166C>T (p.Ala722=) rs994009828
NM_173354.5(SIK1):c.2172G>A (p.Ala724=) rs897883794
NM_173354.5(SIK1):c.2182C>T (p.Leu728=) rs926567754
NM_173354.5(SIK1):c.2196G>A (p.Leu732=)
NM_173354.5(SIK1):c.2208C>G (p.Thr736=) rs377024605
NM_173354.5(SIK1):c.2211C>T (p.Gly737=) rs754064357
NM_173354.5(SIK1):c.2220C>T (p.Ala740=)
NM_173354.5(SIK1):c.2226C>G (p.Pro742=) rs199872172
NM_173354.5(SIK1):c.2238A>G (p.Pro746=)
NM_173354.5(SIK1):c.2250C>T (p.Ala750=)
NM_173354.5(SIK1):c.2311C>T (p.Leu771=) rs2146467426
NM_173354.5(SIK1):c.2334G>A (p.Thr778=) rs149343716
NM_173354.5(SIK1):c.2340C>T (p.Val780=) rs2146467388
NM_173354.5(SIK1):c.237G>A (p.Lys79=)
NM_173354.5(SIK1):c.24C>T (p.Ser8=)
NM_173354.5(SIK1):c.252A>G (p.Pro84=)
NM_173354.5(SIK1):c.273+13C>T
NM_173354.5(SIK1):c.273+15T>C rs201358826
NM_173354.5(SIK1):c.273+15T>G rs201358826
NM_173354.5(SIK1):c.273+16G>A rs1311079707
NM_173354.5(SIK1):c.273+7G>A rs2146475913
NM_173354.5(SIK1):c.273+8G>A rs370279333
NM_173354.5(SIK1):c.274-5T>C
NM_173354.5(SIK1):c.274-6C>A
NM_173354.5(SIK1):c.282A>G (p.Glu94=)
NM_173354.5(SIK1):c.285A>G (p.Thr95=) rs2146474546
NM_173354.5(SIK1):c.337+10A>G
NM_173354.5(SIK1):c.337+11C>T
NM_173354.5(SIK1):c.337+17T>C rs2146474455
NM_173354.5(SIK1):c.337+19C>T
NM_173354.5(SIK1):c.337+20A>G
NM_173354.5(SIK1):c.338-14T>C rs2146474287
NM_173354.5(SIK1):c.338-18T>C
NM_173354.5(SIK1):c.338-25_338-20del
NM_173354.5(SIK1):c.33C>A (p.Pro11=)
NM_173354.5(SIK1):c.348T>G (p.Thr116=) rs2146474230
NM_173354.5(SIK1):c.357G>A (p.Gly119=)
NM_173354.5(SIK1):c.36G>C (p.Ala12=) rs763900549
NM_173354.5(SIK1):c.377C>T (p.Ala126Val) rs2081057135
NM_173354.5(SIK1):c.381G>A (p.Arg127=) rs2146474165
NM_173354.5(SIK1):c.400C>T (p.Leu134=) rs1601510250
NM_173354.5(SIK1):c.402G>A (p.Leu134=)
NM_173354.5(SIK1):c.402G>C (p.Leu134=) rs925035221
NM_173354.5(SIK1):c.424G>C (p.Asp142His) rs45491503
NM_173354.5(SIK1):c.466C>T (p.Leu156=) rs1569016426
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_173354.5(SIK1):c.499+10_499+11delinsCC rs2146474030
NM_173354.5(SIK1):c.499+13C>T
NM_173354.5(SIK1):c.499+13_499+55del rs2146473974
NM_173354.5(SIK1):c.499+16G>A
NM_173354.5(SIK1):c.499+17G>A
NM_173354.5(SIK1):c.499+9G>T rs772859594
NM_173354.5(SIK1):c.500-6G>A
NM_173354.5(SIK1):c.500-6G>T rs537948000
NM_173354.5(SIK1):c.500-7C>T
NM_173354.5(SIK1):c.501T>C (p.Asp167=)
NM_173354.5(SIK1):c.513G>C (p.Gly171=) rs2081055591
NM_173354.5(SIK1):c.525G>A (p.Lys175=)
NM_173354.5(SIK1):c.534G>A (p.Glu178=)
NM_173354.5(SIK1):c.552T>C (p.Cys184=) rs2146473768
NM_173354.5(SIK1):c.564G>A (p.Pro188=) rs373343445
NM_173354.5(SIK1):c.564G>T (p.Pro188=) rs373343445
NM_173354.5(SIK1):c.570C>T (p.Ala190=)
NM_173354.5(SIK1):c.573C>T (p.Ala191=) rs766226295
NM_173354.5(SIK1):c.57G>A (p.Gln19=)
NM_173354.5(SIK1):c.591G>C (p.Gly197=) rs1463286648
NM_173354.5(SIK1):c.600T>C (p.Tyr200=) rs2146473660
NM_173354.5(SIK1):c.606C>A (p.Gly202=) rs2146473652
NM_173354.5(SIK1):c.624+12G>A
NM_173354.5(SIK1):c.624+19C>G
NM_173354.5(SIK1):c.624+20A>G
NM_173354.5(SIK1):c.625-12G>C rs756924717
NM_173354.5(SIK1):c.625-6C>T
NM_173354.5(SIK1):c.625-9C>T rs2146473425
NM_173354.5(SIK1):c.633C>T (p.Gly211=)
NM_173354.5(SIK1):c.63C>A (p.Pro21=) rs2146476475
NM_173354.5(SIK1):c.645C>T (p.Tyr215=)
NM_173354.5(SIK1):c.648C>T (p.Val216=)
NM_173354.5(SIK1):c.654C>T (p.Val218=)
NM_173354.5(SIK1):c.657C>T (p.Cys219=)
NM_173354.5(SIK1):c.666C>T (p.Leu222=) rs2146473356
NM_173354.5(SIK1):c.669C>T (p.Pro223=) rs138329388
NM_173354.5(SIK1):c.693G>C (p.Thr231=)
NM_173354.5(SIK1):c.702G>A (p.Gln234=) rs2146473256
NM_173354.5(SIK1):c.720C>T (p.Arg240=)
NM_173354.5(SIK1):c.748+16T>C
NM_173354.5(SIK1):c.748+17C>G
NM_173354.5(SIK1):c.748+20del
NM_173354.5(SIK1):c.749-11C>T
NM_173354.5(SIK1):c.749-4A>C
NM_173354.5(SIK1):c.765C>A (p.Ile255=)
NM_173354.5(SIK1):c.801C>T (p.Ile267=)
NM_173354.5(SIK1):c.804C>A (p.Thr268=) rs2146472763
NM_173354.5(SIK1):c.840T>C (p.Ala280=) rs779456208
NM_173354.5(SIK1):c.849C>T (p.Cys283=) rs528484611
NM_173354.5(SIK1):c.850T>C (p.Leu284=) rs2146472664
NM_173354.5(SIK1):c.855G>T (p.Pro285=) rs549052367
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr) rs201889040
NM_173354.5(SIK1):c.87C>T (p.Ile29=)
NM_173354.5(SIK1):c.891C>T (p.Tyr297=)
NM_173354.5(SIK1):c.894C>G (p.Thr298=)
NM_173354.5(SIK1):c.900C>T (p.Asn300=) rs2146472549
NM_173354.5(SIK1):c.901C>T (p.Leu301=) rs1467859908
NM_173354.5(SIK1):c.90G>A (p.Glu30=)
NM_173354.5(SIK1):c.912C>T (p.Tyr304=) rs1294261387
NM_173354.5(SIK1):c.924G>T (p.Ala308=) rs199738681
NM_173354.5(SIK1):c.943C>T (p.Leu315=) rs763874876
NM_173354.5(SIK1):c.948C>A (p.Gly316=)
NM_173354.5(SIK1):c.972+10G>A rs2146472401
NM_173354.5(SIK1):c.972+13_972+27del
NM_173354.5(SIK1):c.972+14C>T
NM_173354.5(SIK1):c.973-13C>T
NM_173354.5(SIK1):c.973-14C>T
NM_173354.5(SIK1):c.973-16C>T rs2146472238
NM_173354.5(SIK1):c.973-5C>G
NM_173354.5(SIK1):c.993T>C (p.Tyr331=)
NM_173354.5(SIK1):c.99G>A (p.Leu33=) rs1220306715
NM_173354.5(SIK1):c.9C>T (p.Ile3=) rs1307688110

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