ClinVar Miner

List of variants reported as likely benign for Early myoclonic encephalopathy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 564
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys) rs71508957 0.00482
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00248
NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp) rs201112543 0.00245
NM_032776.3(JMJD1C):c.959G>A (p.Ser320Asn) rs201497554 0.00113
NM_032776.3(JMJD1C):c.1868T>C (p.Ile623Thr) rs183692723 0.00112
NM_012281.3(KCND2):c.746C>T (p.Ala249Val) rs146220085 0.00102
NM_032776.3(JMJD1C):c.6112G>C (p.Glu2038Gln) rs201787760 0.00099
NM_032776.3(JMJD1C):c.2832A>G (p.Pro944=) rs61758114 0.00098
NM_012281.3(KCND2):c.1375-8G>T rs201244697 0.00093
NM_012281.3(KCND2):c.1415C>T (p.Ser472Phe) rs146058924 0.00091
NM_032776.3(JMJD1C):c.4180A>T (p.Thr1394Ser) rs139881253 0.00088
NM_032776.3(JMJD1C):c.6702T>C (p.Asn2234=) rs201800652 0.00082
NM_032776.3(JMJD1C):c.5074+8dup rs774107583 0.00076
NM_032776.3(JMJD1C):c.4567A>T (p.Ile1523Phe) rs183013953 0.00073
NM_032776.3(JMJD1C):c.1544A>G (p.Asp515Gly) rs61758117 0.00068
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile) rs200769337 0.00068
NM_032776.3(JMJD1C):c.72T>C (p.Arg24=) rs182663630 0.00067
NM_032776.3(JMJD1C):c.1103G>A (p.Arg368Gln) rs200644675 0.00066
NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His) rs200016210 0.00061
NM_032776.3(JMJD1C):c.334-20A>T rs374798349 0.00061
NM_032776.3(JMJD1C):c.2037T>C (p.His679=) rs112116567 0.00059
NM_032776.3(JMJD1C):c.468C>G (p.Asn156Lys) rs145265323 0.00057
NM_032776.3(JMJD1C):c.168+9G>A rs368307551 0.00056
NM_032776.3(JMJD1C):c.2895A>T (p.Glu965Asp) rs189118006 0.00056
NM_032776.3(JMJD1C):c.4286C>T (p.Ser1429Leu) rs201627592 0.00056
NM_032776.3(JMJD1C):c.5250A>G (p.Val1750=) rs369497646 0.00056
NM_032776.3(JMJD1C):c.6427A>G (p.Ile2143Val) rs200368807 0.00049
NM_032776.3(JMJD1C):c.2538A>G (p.Gly846=) rs200418707 0.00048
NM_012281.3(KCND2):c.216G>A (p.Arg72=) rs140949631 0.00047
NM_032776.3(JMJD1C):c.5862+18G>T rs748928858 0.00046
NM_012281.3(KCND2):c.1441C>T (p.Leu481=) rs370190131 0.00044
NM_032776.3(JMJD1C):c.822+14T>C rs377123420 0.00044
NM_032776.3(JMJD1C):c.1703A>T (p.Asp568Val) rs201464655 0.00041
NM_032776.3(JMJD1C):c.1804C>G (p.Pro602Ala) rs200874068 0.00041
NM_032776.3(JMJD1C):c.2579A>G (p.Tyr860Cys) rs201696710 0.00041
NM_032776.3(JMJD1C):c.3157G>C (p.Ala1053Pro) rs144839482 0.00041
NM_032776.3(JMJD1C):c.4209C>T (p.Ala1403=) rs193233064 0.00040
NM_032776.3(JMJD1C):c.966A>G (p.Pro322=) rs200728992 0.00038
NM_032776.3(JMJD1C):c.1166T>C (p.Ile389Thr) rs201371848 0.00034
NM_032776.3(JMJD1C):c.4386G>C (p.Lys1462Asn) rs188520171 0.00031
NM_032776.3(JMJD1C):c.4863T>G (p.Thr1621=) rs376675037 0.00030
NM_012281.3(KCND2):c.432C>T (p.Asn144=) rs150367628 0.00029
NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=) rs372806250 0.00029
NM_032776.3(JMJD1C):c.4808T>C (p.Ile1603Thr) rs200242659 0.00027
NM_012281.3(KCND2):c.1209G>A (p.Pro403=) rs139984469 0.00026
NM_032776.3(JMJD1C):c.3214C>T (p.Arg1072Cys) rs566751308 0.00025
NM_032776.3(JMJD1C):c.894G>A (p.Gln298=) rs371805077 0.00025
NM_032776.3(JMJD1C):c.1391C>T (p.Ser464Leu) rs201514908 0.00024
NM_012281.3(KCND2):c.1116-14T>A rs184667978 0.00021
NM_032776.3(JMJD1C):c.1698C>T (p.Val566=) rs376805557 0.00021
NM_032776.3(JMJD1C):c.6077-11T>A rs199920148 0.00021
NM_032776.3(JMJD1C):c.1867A>G (p.Ile623Val) rs753603959 0.00020
NM_032776.3(JMJD1C):c.2982G>A (p.Arg994=) rs371113186 0.00020
NM_012281.3(KCND2):c.1598G>A (p.Arg533Gln) rs367713278 0.00019
NM_032776.3(JMJD1C):c.4380T>C (p.Ser1460=) rs142996119 0.00019
NM_032776.3(JMJD1C):c.5409A>G (p.Lys1803=) rs201595819 0.00019
NM_012281.3(KCND2):c.1338G>A (p.Gln446=) rs144966242 0.00018
NM_012281.3(KCND2):c.1418G>C (p.Ser473Thr) rs140087318 0.00017
NM_032776.3(JMJD1C):c.2838G>A (p.Leu946=) rs766538443 0.00016
NM_032776.3(JMJD1C):c.4497C>T (p.Ala1499=) rs201686311 0.00016
NM_032776.3(JMJD1C):c.1016-17T>C rs199894001 0.00015
NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser) rs372198586 0.00014
NM_032776.3(JMJD1C):c.1608A>G (p.Lys536=) rs199536995 0.00014
NM_032776.3(JMJD1C):c.3384G>A (p.Ala1128=) rs199576131 0.00013
NM_032776.3(JMJD1C):c.3720T>A (p.Ala1240=) rs374157558 0.00013
NM_032776.3(JMJD1C):c.4797T>C (p.Asp1599=) rs200715648 0.00013
NM_032776.3(JMJD1C):c.3486G>A (p.Lys1162=) rs200897999 0.00012
NM_012281.3(KCND2):c.33T>G (p.Phe11Leu) rs35950053 0.00011
NM_032776.3(JMJD1C):c.1143A>G (p.Ser381=) rs182143794 0.00011
NM_032776.3(JMJD1C):c.2862T>C (p.His954=) rs370649422 0.00011
NM_032776.3(JMJD1C):c.2313A>G (p.Gln771=) rs200925734 0.00009
NM_012281.3(KCND2):c.1200A>G (p.Leu400=) rs759052844 0.00008
NM_012281.3(KCND2):c.810C>A (p.Ile270=) rs575666166 0.00008
NM_032776.3(JMJD1C):c.4866T>C (p.Tyr1622=) rs373686710 0.00008
NM_012281.3(KCND2):c.1278+17G>A rs374091534 0.00006
NM_012281.3(KCND2):c.21G>C (p.Ala7=) rs369141117 0.00006
NM_032776.3(JMJD1C):c.3004A>C (p.Asn1002His) rs761151454 0.00006
NM_032776.3(JMJD1C):c.3068G>A (p.Arg1023His) rs200143103 0.00006
NM_032776.3(JMJD1C):c.3345A>C (p.Ser1115=) rs368304419 0.00006
NM_032776.3(JMJD1C):c.448-10A>G rs368431973 0.00006
NM_032776.3(JMJD1C):c.4724T>C (p.Val1575Ala) rs185530790 0.00006
NM_032776.3(JMJD1C):c.7590C>T (p.His2530=) rs375031134 0.00006
NM_012281.3(KCND2):c.1173G>A (p.Ser391=) rs367909110 0.00005
NM_012281.3(KCND2):c.122C>T (p.Ala41Val) rs775640968 0.00005
NM_012281.3(KCND2):c.1674G>A (p.Thr558=) rs142262674 0.00005
NM_012281.3(KCND2):c.51C>T (p.Ile17=) rs751910698 0.00005
NM_032776.3(JMJD1C):c.1008A>T (p.Ser336=) rs377508666 0.00005
NM_032776.3(JMJD1C):c.3162A>G (p.Ser1054=) rs377124953 0.00005
NM_032776.3(JMJD1C):c.3693T>G (p.Thr1231=) rs377625005 0.00005
NM_032776.3(JMJD1C):c.4373T>C (p.Leu1458Ser) rs200797706 0.00005
NM_032776.3(JMJD1C):c.4611A>G (p.Gln1537=) rs368296796 0.00005
NM_032776.3(JMJD1C):c.5445A>G (p.Gln1815=) rs559853876 0.00005
NM_032776.3(JMJD1C):c.5862+8A>G rs770639668 0.00005
NM_032776.3(JMJD1C):c.6522G>A (p.Lys2174=) rs771233853 0.00005
NM_032776.3(JMJD1C):c.7230A>G (p.Ser2410=) rs371366450 0.00005
NM_012281.3(KCND2):c.1278+16C>T rs762461586 0.00004
NM_012281.3(KCND2):c.1635A>G (p.Val545=) rs763513144 0.00004
NM_012281.3(KCND2):c.1715+16C>T rs375239098 0.00004
NM_012281.3(KCND2):c.1788A>G (p.Ala596=) rs1339923869 0.00004
NM_012281.3(KCND2):c.27G>T (p.Leu9=) rs753709368 0.00004
NM_012281.3(KCND2):c.31T>C (p.Phe11Leu) rs142392153 0.00004
NM_012281.3(KCND2):c.48T>C (p.Ala16=) rs141637732 0.00004
NM_012281.3(KCND2):c.765C>T (p.Tyr255=) rs748088278 0.00004
NM_012281.3(KCND2):c.949C>T (p.Leu317=) rs3814462 0.00004
NM_032776.3(JMJD1C):c.159G>A (p.Pro53=) rs758488215 0.00004
NM_032776.3(JMJD1C):c.2481G>A (p.Ala827=) rs548904134 0.00004
NM_032776.3(JMJD1C):c.3498T>C (p.His1166=) rs374137055 0.00004
NM_032776.3(JMJD1C):c.3741A>T (p.Ser1247=) rs150646202 0.00004
NM_032776.3(JMJD1C):c.3870T>C (p.His1290=) rs978230070 0.00004
NM_032776.3(JMJD1C):c.4033C>T (p.Leu1345=) rs777062654 0.00004
NM_032776.3(JMJD1C):c.4038A>G (p.Ala1346=) rs765585678 0.00004
NM_032776.3(JMJD1C):c.4062C>T (p.Ile1354=) rs771859624 0.00004
NM_032776.3(JMJD1C):c.4437T>C (p.Phe1479=) rs369575747 0.00004
NM_032776.3(JMJD1C):c.489G>A (p.Pro163=) rs544692517 0.00004
NM_032776.3(JMJD1C):c.5103T>C (p.Asp1701=) rs759131369 0.00004
NM_032776.3(JMJD1C):c.5122C>T (p.Leu1708=) rs372791018 0.00004
NM_032776.3(JMJD1C):c.5904G>C (p.Leu1968=) rs747979653 0.00004
NM_032776.3(JMJD1C):c.6402G>A (p.Glu2134=) rs372436233 0.00004
NM_032776.3(JMJD1C):c.663C>T (p.Ile221=) rs144745368 0.00004
NM_032776.3(JMJD1C):c.6888A>G (p.Lys2296=) rs765785670 0.00004
NM_032776.3(JMJD1C):c.7386G>A (p.Ala2462=) rs540987742 0.00004
NM_032776.3(JMJD1C):c.7401+12C>T rs374811978 0.00004
NM_012281.3(KCND2):c.1668C>T (p.Leu556=) rs1212749208 0.00003
NM_012281.3(KCND2):c.42A>G (p.Ala14=) rs758651064 0.00003
NM_012281.3(KCND2):c.705C>A (p.Ala235=) rs753241920 0.00003
NM_032776.3(JMJD1C):c.2836T>C (p.Leu946=) rs774670652 0.00003
NM_032776.3(JMJD1C):c.288C>T (p.Ser96=) rs186389187 0.00003
NM_032776.3(JMJD1C):c.45G>C (p.Leu15=) rs756992665 0.00003
NM_032776.3(JMJD1C):c.4665C>T (p.Leu1555=) rs773232519 0.00003
NM_032776.3(JMJD1C):c.5136G>A (p.Gly1712=) rs775248033 0.00003
NM_032776.3(JMJD1C):c.6807C>T (p.Asp2269=) rs750471016 0.00003
NM_032776.3(JMJD1C):c.6831-4T>C rs555948242 0.00003
NM_032776.3(JMJD1C):c.684A>G (p.Leu228=) rs905639606 0.00003
NM_032776.3(JMJD1C):c.6858A>C (p.Pro2286=) rs760036423 0.00003
NM_032776.3(JMJD1C):c.933A>C (p.Pro311=) rs61745579 0.00003
NM_012281.3(KCND2):c.1053T>A (p.Ala351=) rs563342892 0.00002
NM_012281.3(KCND2):c.1320C>T (p.Ser440=) rs200177734 0.00002
NM_012281.3(KCND2):c.1671C>T (p.Ser557=) rs369805149 0.00002
NM_012281.3(KCND2):c.1758A>G (p.Leu586=) rs533375794 0.00002
NM_012281.3(KCND2):c.318T>C (p.Tyr106=) rs769794049 0.00002
NM_012281.3(KCND2):c.469G>A (p.Ala157Thr) rs144765242 0.00002
NM_012281.3(KCND2):c.573G>C (p.Thr191=) rs780770259 0.00002
NM_012281.3(KCND2):c.750A>G (p.Ala250=) rs778783764 0.00002
NM_012281.3(KCND2):c.795C>T (p.Ile265=) rs776818004 0.00002
NM_032776.3(JMJD1C):c.1112A>G (p.Asn371Ser) rs528244230 0.00002
NM_032776.3(JMJD1C):c.1152A>T (p.Ser384=) rs777440094 0.00002
NM_032776.3(JMJD1C):c.1293G>A (p.Gln431=) rs375059867 0.00002
NM_032776.3(JMJD1C):c.2085A>G (p.Thr695=) rs764269914 0.00002
NM_032776.3(JMJD1C):c.2133T>C (p.Phe711=) rs772812493 0.00002
NM_032776.3(JMJD1C):c.2686T>C (p.Leu896=) rs368708436 0.00002
NM_032776.3(JMJD1C):c.2695-9T>C rs537938353 0.00002
NM_032776.3(JMJD1C):c.270C>T (p.Ala90=) rs1452187493 0.00002
NM_032776.3(JMJD1C):c.2867+13G>T rs569189225 0.00002
NM_032776.3(JMJD1C):c.3300T>C (p.Ser1100=) rs1273669583 0.00002
NM_032776.3(JMJD1C):c.3427C>T (p.Leu1143Phe) rs376656512 0.00002
NM_032776.3(JMJD1C):c.3483C>T (p.Gly1161=) rs551938385 0.00002
NM_032776.3(JMJD1C):c.3765C>T (p.Pro1255=) rs1245334320 0.00002
NM_032776.3(JMJD1C):c.3885C>T (p.Ser1295=) rs758192946 0.00002
NM_032776.3(JMJD1C):c.4653A>G (p.Lys1551=) rs759459088 0.00002
NM_032776.3(JMJD1C):c.5766T>G (p.Thr1922=) rs747909955 0.00002
NM_032776.3(JMJD1C):c.6351T>C (p.Val2117=) rs1844490748 0.00002
NM_032776.3(JMJD1C):c.7134A>G (p.Lys2378=) rs370256419 0.00002
NM_032776.3(JMJD1C):c.7401+16T>C rs997381793 0.00002
NM_032776.3(JMJD1C):c.7477T>C (p.Leu2493=) rs372033085 0.00002
NM_012281.3(KCND2):c.108A>G (p.Lys36=) rs759371689 0.00001
NM_012281.3(KCND2):c.1095C>T (p.Ile365=) rs764081621 0.00001
NM_012281.3(KCND2):c.1116-8T>C rs1162564000 0.00001
NM_012281.3(KCND2):c.1164T>A (p.Ser388=) rs1244557597 0.00001
NM_012281.3(KCND2):c.1182G>A (p.Gly394=) rs1402229920 0.00001
NM_012281.3(KCND2):c.1227C>T (p.Phe409=) rs753977756 0.00001
NM_012281.3(KCND2):c.1254A>G (p.Arg418=) rs947120230 0.00001
NM_012281.3(KCND2):c.1314C>T (p.Ser438=) rs758879867 0.00001
NM_012281.3(KCND2):c.1325A>G (p.Asn442Ser) rs957617040 0.00001
NM_012281.3(KCND2):c.1329T>C (p.Ala443=) rs1161024740 0.00001
NM_012281.3(KCND2):c.1374+18del rs780298667 0.00001
NM_012281.3(KCND2):c.1485C>T (p.Asp495=) rs772458094 0.00001
NM_012281.3(KCND2):c.1662A>G (p.Gln554=) rs149174897 0.00001
NM_012281.3(KCND2):c.1833C>T (p.Asp611=) rs751906335 0.00001
NM_012281.3(KCND2):c.234A>C (p.Pro78=) rs547897725 0.00001
NM_012281.3(KCND2):c.249T>C (p.Tyr83=) rs757892556 0.00001
NM_012281.3(KCND2):c.321T>C (p.Pro107=) rs775550938 0.00001
NM_012281.3(KCND2):c.336C>A (p.Ile112=) rs774763376 0.00001
NM_012281.3(KCND2):c.366T>C (p.Phe122=) rs1436911197 0.00001
NM_012281.3(KCND2):c.384C>A (p.Ile128=) rs571281706 0.00001
NM_012281.3(KCND2):c.402T>C (p.Tyr134=) rs777246112 0.00001
NM_012281.3(KCND2):c.585T>C (p.Ile195=) rs1235035337 0.00001
NM_012281.3(KCND2):c.648T>A (p.Ile216=) rs773347530 0.00001
NM_012281.3(KCND2):c.702G>A (p.Thr234=) rs141583673 0.00001
NM_012281.3(KCND2):c.930G>A (p.Leu310=) rs1359896450 0.00001
NM_012281.3(KCND2):c.975C>T (p.Gly325=) rs747037415 0.00001
NM_012281.3(KCND2):c.990G>A (p.Ser330=) rs367633670 0.00001
NM_032776.3(JMJD1C):c.1248C>G (p.Pro416=) rs1459771179 0.00001
NM_032776.3(JMJD1C):c.1404C>T (p.Ser468=) rs775051175 0.00001
NM_032776.3(JMJD1C):c.1500A>G (p.Val500=) rs375523280 0.00001
NM_032776.3(JMJD1C):c.1575C>T (p.Asn525=) rs771978909 0.00001
NM_032776.3(JMJD1C):c.1617T>C (p.Pro539=) rs1192435231 0.00001
NM_032776.3(JMJD1C):c.1950T>C (p.Thr650=) rs1362411291 0.00001
NM_032776.3(JMJD1C):c.1968A>G (p.Val656=) rs767533800 0.00001
NM_032776.3(JMJD1C):c.2355T>G (p.Gly785=) rs751979712 0.00001
NM_032776.3(JMJD1C):c.2370T>C (p.Val790=) rs1166585010 0.00001
NM_032776.3(JMJD1C):c.2445A>G (p.Leu815=) rs748292789 0.00001
NM_032776.3(JMJD1C):c.2499A>G (p.Gln833=) rs1847632833 0.00001
NM_032776.3(JMJD1C):c.2520G>A (p.Gln840=) rs753409956 0.00001
NM_032776.3(JMJD1C):c.3027G>A (p.Gln1009=) rs1191109718 0.00001
NM_032776.3(JMJD1C):c.3237A>G (p.Lys1079=) rs752100624 0.00001
NM_032776.3(JMJD1C):c.331T>C (p.Leu111=) rs953345838 0.00001
NM_032776.3(JMJD1C):c.3375C>T (p.Ala1125=) rs753417322 0.00001
NM_032776.3(JMJD1C):c.3528A>G (p.Val1176=) rs1338457130 0.00001
NM_032776.3(JMJD1C):c.3621A>G (p.Pro1207=) rs762973842 0.00001
NM_032776.3(JMJD1C):c.3681T>C (p.Leu1227=) rs746245595 0.00001
NM_032776.3(JMJD1C):c.3699T>C (p.Thr1233=) rs547928999 0.00001
NM_032776.3(JMJD1C):c.372A>T (p.Ser124=) rs138979462 0.00001
NM_032776.3(JMJD1C):c.3771A>C (p.Pro1257=) rs758339158 0.00001
NM_032776.3(JMJD1C):c.3819G>A (p.Thr1273=) rs917044261 0.00001
NM_032776.3(JMJD1C):c.4044C>T (p.Ala1348=) rs762369149 0.00001
NM_032776.3(JMJD1C):c.405A>G (p.Gln135=) rs757185251 0.00001
NM_032776.3(JMJD1C):c.4170G>A (p.Thr1390=) rs761026917 0.00001
NM_032776.3(JMJD1C):c.4194A>G (p.Val1398=) rs1222236814 0.00001
NM_032776.3(JMJD1C):c.4299A>G (p.Val1433=) rs762447170 0.00001
NM_032776.3(JMJD1C):c.4488T>C (p.Ser1496=) rs752100806 0.00001
NM_032776.3(JMJD1C):c.4506T>C (p.Thr1502=) rs761401207 0.00001
NM_032776.3(JMJD1C):c.450C>T (p.Asp150=) rs745506808 0.00001
NM_032776.3(JMJD1C):c.4569C>A (p.Ile1523=) rs190438301 0.00001
NM_032776.3(JMJD1C):c.4648C>T (p.Leu1550=) rs1249369239 0.00001
NM_032776.3(JMJD1C):c.477C>T (p.Leu159=) rs777623084 0.00001
NM_032776.3(JMJD1C):c.4791T>C (p.Ser1597=) rs753924601 0.00001
NM_032776.3(JMJD1C):c.4821T>C (p.Tyr1607=) rs577263592 0.00001
NM_032776.3(JMJD1C):c.4893A>G (p.Ser1631=) rs978953712 0.00001
NM_032776.3(JMJD1C):c.5075-10G>A rs781064752 0.00001
NM_032776.3(JMJD1C):c.5091A>G (p.Ser1697=) rs374794763 0.00001
NM_032776.3(JMJD1C):c.5169G>A (p.Glu1723=) rs1434473180 0.00001
NM_032776.3(JMJD1C):c.5196A>C (p.Arg1732=) rs1396013090 0.00001
NM_032776.3(JMJD1C):c.5268C>T (p.Tyr1756=) rs747051989 0.00001
NM_032776.3(JMJD1C):c.5460A>G (p.Glu1820=) rs759321451 0.00001
NM_032776.3(JMJD1C):c.5492-7A>G rs778218913 0.00001
NM_032776.3(JMJD1C):c.554-15T>C rs914735026 0.00001
NM_032776.3(JMJD1C):c.5577C>T (p.Val1859=) rs1845584584 0.00001
NM_032776.3(JMJD1C):c.5734+13T>G rs1330261561 0.00001
NM_032776.3(JMJD1C):c.5734+9A>G rs762282212 0.00001
NM_032776.3(JMJD1C):c.5735-4G>A rs752659477 0.00001
NM_032776.3(JMJD1C):c.5775A>G (p.Glu1925=) rs1295225795 0.00001
NM_032776.3(JMJD1C):c.5835T>C (p.Asn1945=) rs772405867 0.00001
NM_032776.3(JMJD1C):c.594A>G (p.Arg198=) rs758501752 0.00001
NM_032776.3(JMJD1C):c.6054A>G (p.Gln2018=) rs755368944 0.00001
NM_032776.3(JMJD1C):c.6093C>T (p.Thr2031=) rs775487533 0.00001
NM_032776.3(JMJD1C):c.6104A>C (p.Gln2035Pro) rs190194717 0.00001
NM_032776.3(JMJD1C):c.6234T>A (p.Arg2078=) rs905897779 0.00001
NM_032776.3(JMJD1C):c.6285A>T (p.Gly2095=) rs377626799 0.00001
NM_032776.3(JMJD1C):c.6378C>T (p.Thr2126=) rs1161779692 0.00001
NM_032776.3(JMJD1C):c.6627A>G (p.Glu2209=) rs757110706 0.00001
NM_032776.3(JMJD1C):c.66G>A (p.Glu22=) rs766418169 0.00001
NM_032776.3(JMJD1C):c.678+15T>C rs370772472 0.00001
NM_032776.3(JMJD1C):c.6962-20A>C rs1354865945 0.00001
NM_032776.3(JMJD1C):c.7254A>G (p.Leu2418=) rs753964728 0.00001
NM_032776.3(JMJD1C):c.7359C>T (p.Phe2453=) rs1337629053 0.00001
NM_032776.3(JMJD1C):c.7533+17C>T rs751861560 0.00001
NM_032776.3(JMJD1C):c.813C>T (p.Asn271=) rs761545891 0.00001
NM_032776.3(JMJD1C):c.897T>C (p.Asn299=) rs367929683 0.00001
NM_032776.3(JMJD1C):c.987G>A (p.Glu329=) rs1189516728 0.00001
NM_012281.3(KCND2):c.1014C>T (p.Phe338=) rs781428853
NM_012281.3(KCND2):c.1044G>A (p.Gly348=)
NM_012281.3(KCND2):c.1044G>C (p.Gly348=)
NM_012281.3(KCND2):c.1050G>A (p.Ser350=)
NM_012281.3(KCND2):c.1053T>C (p.Ala351=)
NM_012281.3(KCND2):c.1056C>T (p.Ser352=)
NM_012281.3(KCND2):c.105G>A (p.Arg35=)
NM_012281.3(KCND2):c.1068C>T (p.Ser356=) rs1221856771
NM_012281.3(KCND2):c.1071C>T (p.Ile357=)
NM_012281.3(KCND2):c.1115+13A>C
NM_012281.3(KCND2):c.1116-16T>G
NM_012281.3(KCND2):c.1116-17T>C
NM_012281.3(KCND2):c.1167C>T (p.Ile389=)
NM_012281.3(KCND2):c.1174C>T (p.Leu392=)
NM_012281.3(KCND2):c.1194T>C (p.Ile398=)
NM_012281.3(KCND2):c.1245G>A (p.Gln415=)
NM_012281.3(KCND2):c.1278+13C>T
NM_012281.3(KCND2):c.1278+7A>G rs2116147039
NM_012281.3(KCND2):c.1279-19T>A
NM_012281.3(KCND2):c.1279-6C>T
NM_012281.3(KCND2):c.1374+15A>C
NM_012281.3(KCND2):c.1375-10T>G
NM_012281.3(KCND2):c.1375-14C>G
NM_012281.3(KCND2):c.1375-7T>G
NM_012281.3(KCND2):c.1380A>G (p.Ser460=) rs1584903787
NM_012281.3(KCND2):c.1411G>A (p.Gly471Ser)
NM_012281.3(KCND2):c.1464C>T (p.Thr488=)
NM_012281.3(KCND2):c.1468-13A>G rs2116189673
NM_012281.3(KCND2):c.1468-14C>T rs1792997939
NM_012281.3(KCND2):c.1468-16T>C
NM_012281.3(KCND2):c.1494C>T (p.Val498=) rs2116189796
NM_012281.3(KCND2):c.1704T>G (p.Pro568=) rs2116190590
NM_012281.3(KCND2):c.1715+8A>G rs1793001971
NM_012281.3(KCND2):c.1716-14T>G
NM_012281.3(KCND2):c.1716-6T>C
NM_012281.3(KCND2):c.1716-7C>G rs1584905520
NM_012281.3(KCND2):c.174C>G (p.Thr58=)
NM_012281.3(KCND2):c.174C>T (p.Thr58=)
NM_012281.3(KCND2):c.1773T>C (p.Pro591=) rs1404266875
NM_012281.3(KCND2):c.1782T>C (p.Thr594=)
NM_012281.3(KCND2):c.1797C>T (p.Ser599=)
NM_012281.3(KCND2):c.1803A>G (p.Pro601=)
NM_012281.3(KCND2):c.1824A>G (p.Pro608=) rs2116195795
NM_012281.3(KCND2):c.1836T>C (p.Asp612=)
NM_012281.3(KCND2):c.1893A>G (p.Ter631=)
NM_012281.3(KCND2):c.195T>A (p.Thr65=) rs1584706291
NM_012281.3(KCND2):c.213G>A (p.Glu71=)
NM_012281.3(KCND2):c.273C>T (p.Ile91=) rs2116242517
NM_012281.3(KCND2):c.279C>T (p.Arg93=)
NM_012281.3(KCND2):c.27G>C (p.Leu9=) rs753709368
NM_012281.3(KCND2):c.330G>A (p.Glu110=) rs1584706391
NM_012281.3(KCND2):c.39G>A (p.Arg13=)
NM_012281.3(KCND2):c.405G>A (p.Glu135=) rs1799153420
NM_012281.3(KCND2):c.438G>A (p.Glu146=)
NM_012281.3(KCND2):c.468C>G (p.Thr156=) rs149119940
NM_012281.3(KCND2):c.468C>T (p.Thr156=) rs149119940
NM_012281.3(KCND2):c.553C>T (p.Leu185=)
NM_012281.3(KCND2):c.576G>A (p.Gly192=)
NM_012281.3(KCND2):c.582C>T (p.Phe194=)
NM_012281.3(KCND2):c.588C>T (p.Ala196=)
NM_012281.3(KCND2):c.603G>T (p.Ala201=) rs756020692
NM_012281.3(KCND2):c.624G>A (p.Pro208=) rs370036350
NM_012281.3(KCND2):c.627C>T (p.Cys209=)
NM_012281.3(KCND2):c.639A>C (p.Pro213=)
NM_012281.3(KCND2):c.666A>C (p.Gly222=)
NM_012281.3(KCND2):c.684C>T (p.Ala228=) rs143590028
NM_012281.3(KCND2):c.696G>A (p.Leu232=)
NM_012281.3(KCND2):c.69C>G (p.Ala23=)
NM_012281.3(KCND2):c.69C>T (p.Ala23=)
NM_012281.3(KCND2):c.726T>G (p.Val242=)
NM_012281.3(KCND2):c.742C>T (p.Leu248=) rs2116243692
NM_012281.3(KCND2):c.774G>C (p.Val258=)
NM_012281.3(KCND2):c.852C>T (p.Asp284=)
NM_012281.3(KCND2):c.870C>A (p.Val290=) rs1584706773
NM_012281.3(KCND2):c.915C>G (p.Arg305=)
NM_012281.3(KCND2):c.927C>A (p.Gly309=) rs2116244171
NM_012281.3(KCND2):c.939G>C (p.Leu313=) rs1303676765
NM_012281.3(KCND2):c.954G>A (p.Lys318=)
NM_012281.3(KCND2):c.978C>T (p.Phe326=) rs1554421107
NM_012281.3(KCND2):c.993C>A (p.Leu331=)
NM_032776.3(JMJD1C):c.1015+9C>T rs1847845891
NM_032776.3(JMJD1C):c.1020T>C (p.Asn340=)
NM_032776.3(JMJD1C):c.1071G>A (p.Glu357=) rs1847826247
NM_032776.3(JMJD1C):c.1074T>C (p.Asp358=) rs1361787535
NM_032776.3(JMJD1C):c.1084C>T (p.Leu362=) rs1280256287
NM_032776.3(JMJD1C):c.1125T>C (p.Phe375=) rs1589169860
NM_032776.3(JMJD1C):c.117G>C (p.Ala39=)
NM_032776.3(JMJD1C):c.1191A>G (p.Pro397=) rs1589169670
NM_032776.3(JMJD1C):c.1197T>C (p.Asn399=) rs1589169651
NM_032776.3(JMJD1C):c.120G>T (p.Gly40=) rs2133123479
NM_032776.3(JMJD1C):c.123C>T (p.Val41=) rs2133123441
NM_032776.3(JMJD1C):c.1347G>C (p.Arg449=)
NM_032776.3(JMJD1C):c.147C>T (p.Asp49=) rs2133123207
NM_032776.3(JMJD1C):c.1480C>T (p.Leu494=) rs2133224175
NM_032776.3(JMJD1C):c.1527T>A (p.Val509=) rs2133223729
NM_032776.3(JMJD1C):c.168+10del rs879419570
NM_032776.3(JMJD1C):c.168+18C>T
NM_032776.3(JMJD1C):c.168+19C>T
NM_032776.3(JMJD1C):c.168+20C>G
NM_032776.3(JMJD1C):c.168+9_168+11delinsACG rs386744629
NM_032776.3(JMJD1C):c.1686C>T (p.Asp562=)
NM_032776.3(JMJD1C):c.169-11T>G
NM_032776.3(JMJD1C):c.169-18G>A
NM_032776.3(JMJD1C):c.1806T>A (p.Pro602=) rs1589167462
NM_032776.3(JMJD1C):c.1845G>A (p.Lys615=) rs2133220433
NM_032776.3(JMJD1C):c.1854A>C (p.Pro618=)
NM_032776.3(JMJD1C):c.1983T>C (p.Thr661=)
NM_032776.3(JMJD1C):c.1986T>C (p.Tyr662=)
NM_032776.3(JMJD1C):c.2007T>C (p.Gly669=)
NM_032776.3(JMJD1C):c.2010A>G (p.Glu670=) rs746334497
NM_032776.3(JMJD1C):c.2097A>G (p.Thr699=)
NM_032776.3(JMJD1C):c.2151T>A (p.Pro717=)
NM_032776.3(JMJD1C):c.2268T>C (p.Pro756=) rs2133215902
NM_032776.3(JMJD1C):c.2316T>C (p.Thr772=)
NM_032776.3(JMJD1C):c.2358A>T (p.Pro786=) rs1447114427
NM_032776.3(JMJD1C):c.2391C>A (p.Pro797=) rs763838753
NM_032776.3(JMJD1C):c.2418C>G (p.Ala806=) rs910216672
NM_032776.3(JMJD1C):c.2424A>G (p.Leu808=) rs769904055
NM_032776.3(JMJD1C):c.2481G>T (p.Ala827=)
NM_032776.3(JMJD1C):c.2482C>T (p.Leu828=) rs1564619004
NM_032776.3(JMJD1C):c.249G>A (p.Val83=)
NM_032776.3(JMJD1C):c.2550T>G (p.Pro850=)
NM_032776.3(JMJD1C):c.2562T>C (p.Tyr854=) rs2133212868
NM_032776.3(JMJD1C):c.2565T>C (p.Asn855=)
NM_032776.3(JMJD1C):c.25C>T (p.Leu9=)
NM_032776.3(JMJD1C):c.2619C>T (p.Tyr873=)
NM_032776.3(JMJD1C):c.2661A>G (p.Glu887=) rs2133212088
NM_032776.3(JMJD1C):c.2775C>T (p.Val925=) rs754472073
NM_032776.3(JMJD1C):c.2784C>T (p.Ser928=) rs1589152618
NM_032776.3(JMJD1C):c.27G>A (p.Leu9=)
NM_032776.3(JMJD1C):c.27G>C (p.Leu9=) rs750072663
NM_032776.3(JMJD1C):c.2805T>A (p.Pro935=)
NM_032776.3(JMJD1C):c.2841A>G (p.Thr947=) rs763180095
NM_032776.3(JMJD1C):c.2867+19A>C
NM_032776.3(JMJD1C):c.2868-8C>T rs1846968833
NM_032776.3(JMJD1C):c.2868-9T>C
NM_032776.3(JMJD1C):c.2935C>T (p.Leu979=) rs139734770
NM_032776.3(JMJD1C):c.2940T>C (p.Asp980=)
NM_032776.3(JMJD1C):c.2976A>G (p.Leu992=) rs2133164464
NM_032776.3(JMJD1C):c.3156G>A (p.Val1052=) rs2133162604
NM_032776.3(JMJD1C):c.3207T>C (p.Asp1069=) rs1461358577
NM_032776.3(JMJD1C):c.3243G>A (p.Lys1081=)
NM_032776.3(JMJD1C):c.3303G>A (p.Val1101=)
NM_032776.3(JMJD1C):c.3303G>C (p.Val1101=) rs771035963
NM_032776.3(JMJD1C):c.3306C>T (p.Val1102=)
NM_032776.3(JMJD1C):c.333+10A>G rs2134500737
NM_032776.3(JMJD1C):c.333+10A>T rs2134500737
NM_032776.3(JMJD1C):c.333+14C>G
NM_032776.3(JMJD1C):c.334-19A>T
NM_032776.3(JMJD1C):c.3387A>G (p.Ala1129=)
NM_032776.3(JMJD1C):c.3402A>G (p.Gln1134=) rs2133159675
NM_032776.3(JMJD1C):c.3408G>T (p.Leu1136=)
NM_032776.3(JMJD1C):c.3441A>G (p.Pro1147=) rs941064607
NM_032776.3(JMJD1C):c.3471A>G (p.Glu1157=)
NM_032776.3(JMJD1C):c.3513T>C (p.Ile1171=)
NM_032776.3(JMJD1C):c.3552G>A (p.Arg1184=) rs1208322503
NM_032776.3(JMJD1C):c.3606A>G (p.Ala1202=)
NM_032776.3(JMJD1C):c.3609A>G (p.Leu1203=) rs1589149313
NM_032776.3(JMJD1C):c.3645C>T (p.His1215=) rs1846860660
NM_032776.3(JMJD1C):c.3681T>G (p.Leu1227=)
NM_032776.3(JMJD1C):c.3684C>T (p.Ser1228=) rs1846856432
NM_032776.3(JMJD1C):c.3702G>A (p.Pro1234=)
NM_032776.3(JMJD1C):c.3757C>T (p.Leu1253=)
NM_032776.3(JMJD1C):c.375C>T (p.Val125=) rs1447328277
NM_032776.3(JMJD1C):c.3780C>T (p.Ser1260=) rs764321670
NM_032776.3(JMJD1C):c.381A>G (p.Ala127=) rs1346112475
NM_032776.3(JMJD1C):c.3823A>T (p.Met1275Leu) rs540558753
NM_032776.3(JMJD1C):c.3837T>C (p.Asn1279=) rs1224169270
NM_032776.3(JMJD1C):c.3909A>G (p.Ala1303=) rs2133153790
NM_032776.3(JMJD1C):c.3927A>G (p.Pro1309=)
NM_032776.3(JMJD1C):c.3967T>C (p.Leu1323=)
NM_032776.3(JMJD1C):c.4008G>A (p.Gly1336=)
NM_032776.3(JMJD1C):c.4113C>T (p.Asn1371=) rs1247014343
NM_032776.3(JMJD1C):c.4116T>C (p.Phe1372=)
NM_032776.3(JMJD1C):c.4119G>A (p.Gln1373=)
NM_032776.3(JMJD1C):c.411T>C (p.Asp137=) rs561459877
NM_032776.3(JMJD1C):c.4125C>T (p.Val1375=) rs2133151362
NM_032776.3(JMJD1C):c.4227C>T (p.Ser1409=)
NM_032776.3(JMJD1C):c.4284A>G (p.Thr1428=) rs2133149325
NM_032776.3(JMJD1C):c.4323A>G (p.Pro1441=)
NM_032776.3(JMJD1C):c.4350C>T (p.Val1450=)
NM_032776.3(JMJD1C):c.4386G>A (p.Lys1462=) rs188520171
NM_032776.3(JMJD1C):c.441C>T (p.Pro147=)
NM_032776.3(JMJD1C):c.4422A>C (p.Ser1474=)
NM_032776.3(JMJD1C):c.4455C>T (p.His1485=)
NM_032776.3(JMJD1C):c.4464A>G (p.Ala1488=) rs377385483
NM_032776.3(JMJD1C):c.4473A>G (p.Ala1491=) rs2133146821
NM_032776.3(JMJD1C):c.4533A>C (p.Thr1511=)
NM_032776.3(JMJD1C):c.4548T>C (p.Leu1516=) rs2133145980
NM_032776.3(JMJD1C):c.45G>A (p.Leu15=) rs756992665
NM_032776.3(JMJD1C):c.4614T>A (p.Ala1538=) rs2133145061
NM_032776.3(JMJD1C):c.4617C>T (p.Ser1539=) rs753472329
NM_032776.3(JMJD1C):c.462C>T (p.Ser154=) rs1589189257
NM_032776.3(JMJD1C):c.4659C>G (p.Ala1553=) rs2133144495
NM_032776.3(JMJD1C):c.4695T>G (p.Thr1565=) rs1163608474
NM_032776.3(JMJD1C):c.4713A>G (p.Ser1571=) rs2133143968
NM_032776.3(JMJD1C):c.4713A>T (p.Ser1571=) rs2133143968
NM_032776.3(JMJD1C):c.4843A>C (p.Arg1615=) rs1846680996
NM_032776.3(JMJD1C):c.4869A>G (p.Glu1623=)
NM_032776.3(JMJD1C):c.48T>C (p.Cys16=)
NM_032776.3(JMJD1C):c.4959G>A (p.Lys1653=)
NM_032776.3(JMJD1C):c.4974A>G (p.Gln1658=)
NM_032776.3(JMJD1C):c.4977G>A (p.Lys1659=)
NM_032776.3(JMJD1C):c.5074+13C>T
NM_032776.3(JMJD1C):c.5074+14T>C
NM_032776.3(JMJD1C):c.5075-17T>A
NM_032776.3(JMJD1C):c.5109T>C (p.Arg1703=) rs2133081764
NM_032776.3(JMJD1C):c.5148A>G (p.Leu1716=)
NM_032776.3(JMJD1C):c.5211T>C (p.Ile1737=) rs773956806
NM_032776.3(JMJD1C):c.5241C>T (p.His1747=) rs1845896422
NM_032776.3(JMJD1C):c.5277-8T>C
NM_032776.3(JMJD1C):c.5283A>G (p.Ser1761=)
NM_032776.3(JMJD1C):c.5295C>T (p.Asn1765=)
NM_032776.3(JMJD1C):c.5301A>T (p.Val1767=) rs2133064888
NM_032776.3(JMJD1C):c.5319C>T (p.Phe1773=)
NM_032776.3(JMJD1C):c.5388A>G (p.Glu1796=) rs1253466513
NM_032776.3(JMJD1C):c.5454A>G (p.Thr1818=)
NM_032776.3(JMJD1C):c.5484A>G (p.Lys1828=) rs1845692836
NM_032776.3(JMJD1C):c.5491+14A>G
NM_032776.3(JMJD1C):c.5492-9G>A rs1589123853
NM_032776.3(JMJD1C):c.5538T>C (p.Cys1846=) rs1589123712
NM_032776.3(JMJD1C):c.554-17C>G
NM_032776.3(JMJD1C):c.5589T>C (p.Cys1863=) rs1554833174
NM_032776.3(JMJD1C):c.5604C>T (p.Cys1868=)
NM_032776.3(JMJD1C):c.5607A>G (p.Leu1869=)
NM_032776.3(JMJD1C):c.5645-9A>G
NM_032776.3(JMJD1C):c.5655A>G (p.Leu1885=)
NM_032776.3(JMJD1C):c.5691T>C (p.His1897=)
NM_032776.3(JMJD1C):c.5734+20G>A
NM_032776.3(JMJD1C):c.57C>T (p.Val19=) rs2133124257
NM_032776.3(JMJD1C):c.5811C>T (p.Asn1937=) rs1845078415
NM_032776.3(JMJD1C):c.5844A>C (p.Thr1948=) rs2133011274
NM_032776.3(JMJD1C):c.5850T>C (p.Asn1950=)
NM_032776.3(JMJD1C):c.5862+10_5862+11del rs1845073177
NM_032776.3(JMJD1C):c.5868A>G (p.Leu1956=) rs760034491
NM_032776.3(JMJD1C):c.588A>G (p.Val196=) rs780054796
NM_032776.3(JMJD1C):c.5902C>T (p.Leu1968=) rs1034862088
NM_032776.3(JMJD1C):c.5904G>A (p.Leu1968=)
NM_032776.3(JMJD1C):c.5993A>C (p.Asn1998Thr) rs550649881
NM_032776.3(JMJD1C):c.6018G>A (p.Gln2006=) rs2133006564
NM_032776.3(JMJD1C):c.6024A>G (p.Pro2008=) rs2133006517
NM_032776.3(JMJD1C):c.6077-15A>G
NM_032776.3(JMJD1C):c.60C>T (p.Gly20=)
NM_032776.3(JMJD1C):c.612G>A (p.Gln204=)
NM_032776.3(JMJD1C):c.6213T>A (p.Thr2071=) rs1470102272
NM_032776.3(JMJD1C):c.6246A>G (p.Thr2082=) rs1007600942
NM_032776.3(JMJD1C):c.6292-21_6292-19del
NM_032776.3(JMJD1C):c.6292-8C>T rs755721303
NM_032776.3(JMJD1C):c.6297C>T (p.Ser2099=)
NM_032776.3(JMJD1C):c.6360A>G (p.Lys2120=)
NM_032776.3(JMJD1C):c.6453T>C (p.Asn2151=)
NM_032776.3(JMJD1C):c.6504A>G (p.Leu2168=)
NM_032776.3(JMJD1C):c.6513G>A (p.Lys2171=)
NM_032776.3(JMJD1C):c.6570+10_6570+11del
NM_032776.3(JMJD1C):c.6570+13G>A
NM_032776.3(JMJD1C):c.6570+13G>T rs2132952513
NM_032776.3(JMJD1C):c.6570+17G>A
NM_032776.3(JMJD1C):c.6570+20A>G
NM_032776.3(JMJD1C):c.6571-9A>G
NM_032776.3(JMJD1C):c.6606C>T (p.Asn2202=) rs1054058537
NM_032776.3(JMJD1C):c.6740-3dup rs2132914885
NM_032776.3(JMJD1C):c.6740-7C>T
NM_032776.3(JMJD1C):c.6750A>G (p.Lys2250=) rs2132914778
NM_032776.3(JMJD1C):c.6771T>C (p.Val2257=) rs981353505
NM_032776.3(JMJD1C):c.678+13A>C
NM_032776.3(JMJD1C):c.678+14C>T
NM_032776.3(JMJD1C):c.678+16A>C
NM_032776.3(JMJD1C):c.678+16A>G
NM_032776.3(JMJD1C):c.679-5A>T rs1237244107
NM_032776.3(JMJD1C):c.682C>T (p.Leu228=)
NM_032776.3(JMJD1C):c.6831-20G>A
NM_032776.3(JMJD1C):c.6844T>C (p.Leu2282=) rs1349303677
NM_032776.3(JMJD1C):c.6858A>G (p.Pro2286=) rs760036423
NM_032776.3(JMJD1C):c.6876T>C (p.Asn2292=) rs891610063
NM_032776.3(JMJD1C):c.6909G>A (p.Leu2303=) rs2132900386
NM_032776.3(JMJD1C):c.6951C>T (p.Cys2317=) rs2132900164
NM_032776.3(JMJD1C):c.6961+14C>T rs2132900042
NM_032776.3(JMJD1C):c.7074C>T (p.Leu2358=) rs2132884633
NM_032776.3(JMJD1C):c.7084+12A>G
NM_032776.3(JMJD1C):c.7085-16T>C
NM_032776.3(JMJD1C):c.7085-9T>G
NM_032776.3(JMJD1C):c.7092C>G (p.Leu2364=) rs1342898465
NM_032776.3(JMJD1C):c.7138T>C (p.Leu2380=)
NM_032776.3(JMJD1C):c.7191A>G (p.Lys2397=)
NM_032776.3(JMJD1C):c.7224+14T>C
NM_032776.3(JMJD1C):c.7227T>C (p.Ile2409=)
NM_032776.3(JMJD1C):c.7374T>A (p.Ile2458=) rs1589053902
NM_032776.3(JMJD1C):c.7402-19dup rs779521920
NM_032776.3(JMJD1C):c.7440T>C (p.Asp2480=) rs1332989506
NM_032776.3(JMJD1C):c.7503G>A (p.Lys2501=) rs529698959
NM_032776.3(JMJD1C):c.7518T>C (p.Tyr2506=) rs1842049722
NM_032776.3(JMJD1C):c.7534-12C>T
NM_032776.3(JMJD1C):c.7534-12del
NM_032776.3(JMJD1C):c.7534-14A>G
NM_032776.3(JMJD1C):c.7534-16T>C
NM_032776.3(JMJD1C):c.7534-9C>A rs374905392
NM_032776.3(JMJD1C):c.75G>A (p.Ser25=)
NM_032776.3(JMJD1C):c.7620T>C (p.Asn2540=) rs1230119535
NM_032776.3(JMJD1C):c.783A>G (p.Arg261=)
NM_032776.3(JMJD1C):c.822+19A>G
NM_032776.3(JMJD1C):c.823-8_823-6del rs2133232218
NM_032776.3(JMJD1C):c.840C>G (p.Ala280=) rs1847868976
NM_032776.3(JMJD1C):c.906G>A (p.Gln302=) rs2133231395
NM_032776.3(JMJD1C):c.951A>G (p.Ser317=) rs2133231004

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.