ClinVar Miner

List of variants reported as uncertain significance for childhood-onset epilepsy syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 818
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HGVS dbSNP gnomAD frequency
NM_000742.3(CHRNA2):c.-578A>G rs3138834 0.05486
NM_000742.4(CHRNA2):c.-565T>A rs879442926 0.04553
NM_018100.4(EFHC1):c.*1024C>T rs372975445 0.03953
NM_000100.3(CSTB):c.*355C>G rs143062585 0.00808
NM_004287.5(GOSR2):c.*1377G>A rs180777362 0.00573
NM_198859.4(PRICKLE2):c.*3864T>C rs544825776 0.00560
NM_153033.5(KCTD7):c.*3238G>A rs144828027 0.00504
NM_018100.3(EFHC1):c.-162C>T rs41273738 0.00472
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.*896C>T rs112311115 0.00399
NM_198859.4(PRICKLE2):c.-370G>A rs139238137 0.00356
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_001161352.2(KCNMA1):c.*394C>A rs41281550 0.00287
NM_004287.5(GOSR2):c.*1679A>G rs149765350 0.00273
NM_198859.4(PRICKLE2):c.-562G>A rs113321925 0.00266
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_198859.4(PRICKLE2):c.*560T>A rs528463950 0.00238
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_198859.4(PRICKLE2):c.-482A>G rs143342419 0.00219
NM_198586.3(NHLRC1):c.*332G>T rs140122442 0.00201
NM_018100.4(EFHC1):c.*1876T>G rs148070071 0.00194
NM_001122752.2(SERPINI1):c.*197T>C rs532826558 0.00181
NM_004287.5(GOSR2):c.*2057C>T rs368549324 0.00180
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_153033.5(KCTD7):c.*557A>T rs560766108 0.00147
NM_198586.3(NHLRC1):c.*326C>T rs369668171 0.00144
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686 0.00142
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_005097.4(LGI1):c.345A>G (p.Pro115=) rs151104648 0.00113
NM_018100.4(EFHC1):c.*99T>A rs151292895 0.00110
NM_153033.5(KCTD7):c.*2009A>G rs184129807 0.00105
NM_001161352.2(KCNMA1):c.*2325T>A rs41281548 0.00103
NM_005097.4(LGI1):c.*180G>A rs544656851 0.00103
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_198859.4(PRICKLE2):c.*4994C>T rs190966782 0.00089
NM_005097.4(LGI1):c.-168G>A rs879390887 0.00081
NM_005097.4(LGI1):c.1A>G (p.Met1Val) rs202204627 0.00080
NM_001134407.3(GRIN2A):c.*4229G>T rs780459382 0.00073
NM_198586.3(NHLRC1):c.*442G>C rs555214908 0.00069
NM_153033.4(KCTD7):c.*3826G>C rs182211775 0.00068
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921 0.00066
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_000742.4(CHRNA2):c.*1603C>A rs535057169 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_001134407.3(GRIN2A):c.*6661G>A rs185399319 0.00063
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_198859.4(PRICKLE2):c.*3632T>C rs140681630 0.00063
NM_000100.3(CSTB):c.*435G>A rs149039598 0.00061
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_198859.4(PRICKLE2):c.*4472G>T rs575410668 0.00059
NM_001134407.3(GRIN2A):c.*525G>A rs11575877 0.00058
NM_153033.5(KCTD7):c.*1978A>T rs537471141 0.00058
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) rs143321447 0.00057
NM_153033.5(KCTD7):c.*2988A>G rs118004760 0.00057
NM_004287.5(GOSR2):c.*2336A>T rs569751775 0.00055
NM_001161352.2(KCNMA1):c.3147+15T>C rs145048715 0.00053
NM_004287.5(GOSR2):c.*1703A>G rs144662292 0.00053
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) rs143754727 0.00052
NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) rs139178030 0.00052
NM_000100.3(CSTB):c.*319G>A rs536069557 0.00050
NM_018100.4(EFHC1):c.*527C>T rs540732861 0.00050
NM_198859.4(PRICKLE2):c.*2290T>C rs192971326 0.00048
NM_198859.4(PRICKLE2):c.-258C>T rs1044268884 0.00048
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_020361.5(CPA6):c.*132C>T rs193137313 0.00041
NM_000726.5(CACNB4):c.*592T>C rs779110885 0.00039
NM_153033.5(KCTD7):c.-69C>T rs536230559 0.00038
NM_198904.4(GABRG2):c.*1427C>T rs375013278 0.00037
NM_001134407.3(GRIN2A):c.*3603C>T rs760535393 0.00036
NM_153033.5(KCTD7):c.*1587C>T rs190087991 0.00036
NM_198859.4(PRICKLE2):c.*1868G>C rs886058791 0.00036
NM_198904.4(GABRG2):c.*296G>T rs1025917717 0.00035
NM_001134407.3(GRIN2A):c.*7898A>G rs530398129 0.00034
NM_004287.5(GOSR2):c.*2192T>G rs545130658 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_198859.4(PRICKLE2):c.*3830T>C rs574878914 0.00032
NM_198904.4(GABRG2):c.*247T>C rs371389067 0.00032
NM_001134407.3(GRIN2A):c.*3018G>C rs562770874 0.00031
NM_020361.5(CPA6):c.-11_-10del rs531326049 0.00031
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272 0.00030
NM_001134407.3(GRIN2A):c.*1422A>T rs1011236743 0.00029
NM_001134407.3(GRIN2A):c.*2509G>A rs530124672 0.00029
NM_001161352.2(KCNMA1):c.*115C>A rs557364455 0.00029
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_018100.4(EFHC1):c.*1576C>A rs547537212 0.00029
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622 0.00029
NM_198859.4(PRICKLE2):c.*3755A>G rs756531877 0.00029
NM_001134407.3(GRIN2A):c.*539T>C rs748101743 0.00027
NM_000726.5(CACNB4):c.*1952C>A rs764877003 0.00026
NM_001134407.3(GRIN2A):c.*2544C>T rs766920527 0.00026
NM_001134407.3(GRIN2A):c.*5195A>C rs376857000 0.00026
NM_001134407.3(GRIN2A):c.*5423T>C rs570847684 0.00026
NM_001161352.2(KCNMA1):c.*1006G>A rs200955430 0.00026
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) rs202148793 0.00026
NM_198859.4(PRICKLE2):c.*3116C>T rs1045343958 0.00026
NM_198904.4(GABRG2):c.*422C>T rs752382943 0.00026
NM_000742.4(CHRNA2):c.*386G>T rs542172546 0.00025
NM_001134407.3(GRIN2A):c.*6846C>T rs566418840 0.00025
NM_001134407.3(GRIN2A):c.*8051A>C rs918021343 0.00024
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_020361.5(CPA6):c.-108G>A rs188334231 0.00023
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942 0.00023
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_004287.5(GOSR2):c.*2291C>G rs186093347 0.00021
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_153033.5(KCTD7):c.*1581C>G rs570131389 0.00021
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_198859.4(PRICKLE2):c.-146G>A rs539401922 0.00021
NM_198904.4(GABRG2):c.*374A>G rs573126853 0.00021
NM_198586.3(NHLRC1):c.*38G>T rs377500729 0.00020
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_001122752.2(SERPINI1):c.-23G>A rs886058166 0.00019
NM_001134407.3(GRIN2A):c.*8398G>A rs886052517 0.00019
NM_001161352.2(KCNMA1):c.*862A>G rs199819984 0.00019
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271 0.00019
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser) rs1568036609 0.00019
NM_153033.4(KCTD7):c.*3825T>A rs768325782 0.00019
NM_198904.4(GABRG2):c.*384C>T rs773854777 0.00019
NM_198859.4(PRICKLE2):c.*3325G>A rs531639386 0.00018
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_001134407.3(GRIN2A):c.*1751G>A rs1025593492 0.00017
NM_198859.4(PRICKLE2):c.*1991C>T rs570616523 0.00017
NM_000100.3(CSTB):c.-42C>T rs776181852 0.00016
NM_001134407.3(GRIN2A):c.*3116C>G rs987362569 0.00016
NM_004287.5(GOSR2):c.*1446A>T rs572361575 0.00016
NM_004287.5(GOSR2):c.94+7A>C rs376231923 0.00016
NM_153033.5(KCTD7):c.-155G>C rs886062408 0.00016
NM_198904.4(GABRG2):c.*1468A>G rs372041761 0.00016
NM_000100.3(CSTB):c.*334G>A rs533969154 0.00015
NM_000742.4(CHRNA2):c.-544C>T rs886062851 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_001134407.3(GRIN2A):c.*5006G>A rs773012536 0.00014
NM_001161352.2(KCNMA1):c.*1529C>T rs200493344 0.00014
NM_153033.5(KCTD7):c.*1404G>A rs1007951856 0.00014
NM_198586.3(NHLRC1):c.*837G>A rs536257194 0.00014
NM_198859.4(PRICKLE2):c.*2475G>A rs905971725 0.00014
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_000100.4(CSTB):c.-12G>A rs779920568 0.00013
NM_000816.3(GABRG2):c.-282C>T rs772816792 0.00013
NM_001134407.3(GRIN2A):c.*4207G>A rs747470370 0.00013
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_153033.5(KCTD7):c.*668T>G rs765653009 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696 0.00013
NM_198859.4(PRICKLE2):c.*690G>A rs779719872 0.00013
NM_198859.4(PRICKLE2):c.-447C>T rs886058806 0.00013
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_001134407.3(GRIN2A):c.*6178T>C rs886052531 0.00012
NM_001134407.3(GRIN2A):c.*7289T>A rs868376839 0.00012
NM_001134407.3(GRIN2A):c.*7982A>C rs766455387 0.00012
NM_018100.4(EFHC1):c.*2211C>T rs753392817 0.00012
NM_198859.4(PRICKLE2):c.*3504C>T rs538054092 0.00012
NM_198859.4(PRICKLE2):c.*469G>T rs148724634 0.00012
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 0.00011
NM_000726.5(CACNB4):c.*4145T>C rs781255950 0.00011
NM_001134407.3(GRIN2A):c.*1463C>T rs567206005 0.00011
NM_001134407.3(GRIN2A):c.*150C>T rs759187870 0.00011
NM_001134407.3(GRIN2A):c.*2395C>T rs547067022 0.00011
NM_005097.3(LGI1):c.-227T>C rs150194814 0.00011
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721 0.00011
NM_020361.4(CPA6):c.-247C>A rs530580560 0.00011
NM_153033.5(KCTD7):c.-90G>A rs1031117251 0.00011
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_198859.4(PRICKLE2):c.*1982A>G rs377752523 0.00011
NM_000742.4(CHRNA2):c.*997C>G rs539161001 0.00010
NM_001134407.3(GRIN2A):c.*1998A>T rs886052542 0.00010
NM_001134407.3(GRIN2A):c.*5473G>A rs886052532 0.00010
NM_001134407.3(GRIN2A):c.*574C>A rs886052550 0.00010
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe) rs150357603 0.00010
NM_018100.4(EFHC1):c.*2430C>T rs749445189 0.00010
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp) rs201589247 0.00010
NM_153033.5(KCTD7):c.*1960T>C rs752605506 0.00010
NM_153033.5(KCTD7):c.*738C>G rs755200443 0.00010
NM_153033.5(KCTD7):c.-181T>G rs886062407 0.00010
NM_198859.4(PRICKLE2):c.*1568C>T rs558482444 0.00010
NM_198859.4(PRICKLE2):c.*4769A>G rs981163962 0.00010
NM_000726.5(CACNB4):c.*4919G>A rs763593694 0.00009
NM_000726.5(CACNB4):c.*5487T>C rs111700454 0.00009
NM_001161352.2(KCNMA1):c.*497A>G rs200933957 0.00009
NM_001161352.2(KCNMA1):c.-25C>T rs373677230 0.00009
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078 0.00009
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790 0.00009
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) rs200741233 0.00009
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183 0.00009
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544 0.00009
NM_198859.4(PRICKLE2):c.*5092T>C rs1056419773 0.00009
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200 0.00009
NM_002247.3(KCNMA1):c.-175C>A rs184782926 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_000100.4(CSTB):c.45G>A (p.Glu15=) rs1057521317 0.00007
NM_001134407.3(GRIN2A):c.*1137T>C rs756637069 0.00007
NM_001134407.3(GRIN2A):c.*6865T>G rs879478291 0.00007
NM_020361.5(CPA6):c.*286A>G rs1370253960 0.00007
NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994 0.00007
NM_198586.3(NHLRC1):c.*797A>G rs886061250 0.00007
NM_198859.4(PRICKLE2):c.*146C>T rs142263776 0.00007
NM_198859.4(PRICKLE2):c.*65G>A rs575414554 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_000100.3(CSTB):c.*301G>A rs886057111 0.00006
NM_000726.5(CACNB4):c.*1785G>A rs886054961 0.00006
NM_000726.5(CACNB4):c.*1931T>C rs886054958 0.00006
NM_000726.5(CACNB4):c.*4569A>G rs778742650 0.00006
NM_000742.4(CHRNA2):c.-136-14T>C rs886062847 0.00006
NM_000742.4(CHRNA2):c.-78C>G rs886062845 0.00006
NM_001134407.3(GRIN2A):c.*2053C>T rs775312419 0.00006
NM_001134407.3(GRIN2A):c.*5161C>T rs369083217 0.00006
NM_001134407.3(GRIN2A):c.*6986A>G rs190006327 0.00006
NM_001134407.3(GRIN2A):c.*8609C>T rs760313721 0.00006
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln) rs148669437 0.00006
NM_001161352.2(KCNMA1):c.*1202C>A rs200435801 0.00006
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_018100.4(EFHC1):c.*681G>A rs560182875 0.00006
NM_018100.4(EFHC1):c.*957C>T rs761411516 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) rs766177388 0.00006
NM_153026.3(PRICKLE1):c.*594_*595del rs769616581 0.00006
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380 0.00006
NM_153033.5(KCTD7):c.*2530G>A rs188529052 0.00006
NM_153033.5(KCTD7):c.*3508G>T rs573049844 0.00006
NM_153033.5(KCTD7):c.*837A>G rs886062415 0.00006
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His) rs149255570 0.00006
NM_198859.4(PRICKLE2):c.-122G>T rs536662179 0.00006
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) rs368904012 0.00006
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_001134407.3(GRIN2A):c.*1359C>T rs759998456 0.00005
NM_001134407.3(GRIN2A):c.*856G>A rs928023607 0.00005
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=) rs758864728 0.00005
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408 0.00005
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268 0.00005
NM_020361.5(CPA6):c.1126+13C>T rs768409721 0.00005
NM_153033.5(KCTD7):c.*516T>C rs865998140 0.00005
NM_198904.4(GABRG2):c.*239C>G rs889255383 0.00005
NM_000726.5(CACNB4):c.*4081G>A rs148903851 0.00004
NM_000742.4(CHRNA2):c.*159G>A rs1026564153 0.00004
NM_000742.4(CHRNA2):c.*1752G>A rs1040675339 0.00004
NM_000742.4(CHRNA2):c.*1775C>T rs773958762 0.00004
NM_000742.4(CHRNA2):c.-537C>T rs564405421 0.00004
NM_001134407.3(GRIN2A):c.*5062A>G rs762073558 0.00004
NM_001134407.3(GRIN2A):c.*9278C>T rs139007678 0.00004
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915 0.00004
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=) rs774169125 0.00004
NM_001161352.2(KCNMA1):c.*1633C>T rs201201425 0.00004
NM_001161352.2(KCNMA1):c.*50C>T rs200326097 0.00004
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397 0.00004
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113 0.00004
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619 0.00004
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) rs767957728 0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 0.00004
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241 0.00004
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser) rs765513191 0.00004
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384 0.00004
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064 0.00004
NM_153033.4(KCTD7):c.*3836T>G rs370135424 0.00004
NM_153033.5(KCTD7):c.*3404T>C rs1206471914 0.00004
NM_153033.5(KCTD7):c.-55C>T rs927832797 0.00004
NM_198859.4(PRICKLE2):c.*3672C>G rs904907709 0.00004
NM_198859.4(PRICKLE2):c.-285A>T rs886058803 0.00004
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=) rs148888682 0.00004
NM_198904.4(GABRG2):c.*1407T>A rs748908802 0.00004
NM_000100.4(CSTB):c.*209A>T rs1466237377 0.00003
NM_000100.4(CSTB):c.9C>T (p.Cys3=) rs555930471 0.00003
NM_000726.5(CACNB4):c.*1937T>G rs758893086 0.00003
NM_000726.5(CACNB4):c.*5122C>T rs187940787 0.00003
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) rs376015337 0.00003
NM_000742.4(CHRNA2):c.*1265T>G rs973667975 0.00003
NM_001134407.3(GRIN2A):c.*1950G>T rs926971233 0.00003
NM_001134407.3(GRIN2A):c.*3589G>A rs763658518 0.00003
NM_001134407.3(GRIN2A):c.*4800G>A rs376201380 0.00003
NM_001134407.3(GRIN2A):c.*5471T>C rs886052533 0.00003
NM_001134407.3(GRIN2A):c.*7207G>A rs886052525 0.00003
NM_001134407.3(GRIN2A):c.*7483C>T rs551009533 0.00003
NM_001134407.3(GRIN2A):c.*8359T>C rs886052518 0.00003
NM_001161352.2(KCNMA1):c.*1887G>A rs886047261 0.00003
NM_001161352.2(KCNMA1):c.-104G>A rs192912320 0.00003
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843 0.00003
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270 0.00003
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757 0.00003
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) rs148648986 0.00003
NM_004287.5(GOSR2):c.*18G>T rs778066395 0.00003
NM_004287.5(GOSR2):c.*2253C>T rs886053085 0.00003
NM_004287.5(GOSR2):c.29+13C>T rs747791818 0.00003
NM_005097.4(LGI1):c.*323A>C rs767119123 0.00003
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu) rs769204967 0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_020361.5(CPA6):c.-51C>A rs758163267 0.00003
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526 0.00003
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111 0.00003
NM_020361.5(CPA6):c.920C>T (p.Ala307Val) rs143107403 0.00003
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_153026.3(PRICKLE1):c.*614G>A rs886049372 0.00003
NM_153033.5(KCTD7):c.*2746G>C rs886062424 0.00003
NM_153033.5(KCTD7):c.-46C>G rs886062412 0.00003
NM_153033.5(KCTD7):c.-94C>T rs886062410 0.00003
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu) rs559020294 0.00003
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val) rs751720071 0.00003
NM_198859.4(PRICKLE2):c.*2909T>A rs545276442 0.00003
NM_198859.4(PRICKLE2):c.*4109C>G rs886058784 0.00003
NM_198859.4(PRICKLE2):c.*4455A>G rs746249344 0.00003
NM_198859.4(PRICKLE2):c.-271A>G rs886058802 0.00003
NM_198859.4(PRICKLE2):c.-363G>A rs569115082 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) rs772691573 0.00003
NM_198904.4(GABRG2):c.*1320G>A rs886060385 0.00003
NM_198904.4(GABRG2):c.-217C>G rs748771306 0.00003
NM_000100.3(CSTB):c.-43C>G rs886057113 0.00002
NM_000726.5(CACNB4):c.*3387C>G rs886054955 0.00002
NM_000742.4(CHRNA2):c.-137+11T>C rs886062848 0.00002
NM_000742.4(CHRNA2):c.-471G>A rs886062850 0.00002
NM_000816.3(GABRG2):c.-250C>T rs886060376 0.00002
NM_001134407.3(GRIN2A):c.*2622A>T rs886052540 0.00002
NM_001134407.3(GRIN2A):c.*7906A>G rs1378990053 0.00002
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=) rs375291296 0.00002
NM_001161352.2(KCNMA1):c.*2326C>A rs199764115 0.00002
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=) rs766964098 0.00002
NM_004287.5(GOSR2):c.*1277C>G rs577505377 0.00002
NM_004287.5(GOSR2):c.*2195C>A rs565638240 0.00002
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630 0.00002
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_020361.5(CPA6):c.*260A>C rs531558365 0.00002
NM_020361.5(CPA6):c.-191T>C rs1014766923 0.00002
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472 0.00002
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224 0.00002
NM_153033.5(KCTD7):c.*1624T>C rs765576236 0.00002
NM_153033.5(KCTD7):c.*2190C>T rs1435600618 0.00002
NM_153033.5(KCTD7):c.*2806G>A rs886062425 0.00002
NM_153033.5(KCTD7):c.369A>C (p.Arg123=) rs753658170 0.00002
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met) rs760837610 0.00002
NM_198586.3(NHLRC1):c.*210T>C rs1370146880 0.00002
NM_198859.4(PRICKLE2):c.*1114C>T rs752334583 0.00002
NM_198859.4(PRICKLE2):c.*1633G>A rs1405669224 0.00002
NM_198859.4(PRICKLE2):c.*3540C>T rs977486642 0.00002
NM_198859.4(PRICKLE2):c.*4531T>C rs1404217716 0.00002
NM_198859.4(PRICKLE2):c.-371C>T rs886058805 0.00002
NM_198859.4(PRICKLE2):c.-559A>G rs550234814 0.00002
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 0.00002
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys) rs749232741 0.00002
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800 0.00002
NM_198904.4(GABRG2):c.*117A>G rs187224842 0.00002
NM_198904.4(GABRG2):c.24C>A (p.Ser8Arg) rs183259247 0.00002
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_000100.3(CSTB):c.-55G>A rs533879406 0.00001
NM_000100.4(CSTB):c.169-14C>T rs757593576 0.00001
NM_000100.4(CSTB):c.169G>T (p.Val57Leu) rs796052394 0.00001
NM_000726.5(CACNB4):c.*1811C>A rs886054960 0.00001
NM_000726.5(CACNB4):c.*2924T>C rs886054956 0.00001
NM_000726.5(CACNB4):c.*3688G>A rs886054954 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
NM_000742.4(CHRNA2):c.*1096C>G rs886062842 0.00001
NM_000742.4(CHRNA2):c.*133G>T rs1395465476 0.00001
NM_000742.4(CHRNA2):c.*1845A>T rs377169301 0.00001
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val) rs765772636 0.00001
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser) rs1405035752 0.00001
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His) rs532212433 0.00001
NM_000742.4(CHRNA2):c.339+10C>A rs746630071 0.00001
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn) rs371067379 0.00001
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=) rs375239013 0.00001
NM_000816.3(GABRG2):c.-334C>T rs886060374 0.00001
NM_000816.3(GABRG2):c.-355A>C rs1241101902 0.00001
NM_001134407.3(GRIN2A):c.*1194G>A rs1900603318 0.00001
NM_001134407.3(GRIN2A):c.*2314G>A rs1333457208 0.00001
NM_001134407.3(GRIN2A):c.*391C>G rs1352613566 0.00001
NM_001134407.3(GRIN2A):c.*4281A>G rs570250938 0.00001
NM_001134407.3(GRIN2A):c.*5693C>A rs1347007533 0.00001
NM_001134407.3(GRIN2A):c.*6084C>T rs1596368278 0.00001
NM_001134407.3(GRIN2A):c.*7775C>T rs886052521 0.00001
NM_001134407.3(GRIN2A):c.*7897C>T rs886052520 0.00001
NM_001134407.3(GRIN2A):c.*8542T>C rs886052516 0.00001
NM_001134407.3(GRIN2A):c.*9481T>A rs967087487 0.00001
NM_001134407.3(GRIN2A):c.*971C>A rs886052547 0.00001
NM_001134407.3(GRIN2A):c.2595+14G>A rs1279723520 0.00001
NM_001134407.3(GRIN2A):c.2985G>A (p.Thr995=) rs781646325 0.00001
NM_001134407.3(GRIN2A):c.3561C>T (p.Tyr1187=) rs750802726 0.00001
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=) rs765614514 0.00001
NM_001134407.3(GRIN2A):c.3678C>T (p.Gly1226=) rs749144109 0.00001
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530 0.00001
NM_001134407.3(GRIN2A):c.3993C>A (p.Val1331=) rs886052554 0.00001
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=) rs372649219 0.00001
NM_001134407.3(GRIN2A):c.835G>A (p.Val279Ile) rs1351708359 0.00001
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=) rs554338361 0.00001
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389 0.00001
NM_001161352.2(KCNMA1):c.*1025G>C rs886047263 0.00001
NM_001161352.2(KCNMA1):c.*129T>G rs201808440 0.00001
NM_001161352.2(KCNMA1):c.*15G>A rs200873312 0.00001
NM_001161352.2(KCNMA1):c.*21G>A rs774699192 0.00001
NM_001161352.2(KCNMA1):c.*2226A>G rs560236547 0.00001
NM_001161352.2(KCNMA1):c.*2278G>A rs886047257 0.00001
NM_001161352.2(KCNMA1):c.*531C>T rs748726029 0.00001
NM_001161352.2(KCNMA1):c.*834T>C rs543740279 0.00001
NM_001161352.2(KCNMA1):c.1131+13C>A rs886047268 0.00001
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145 0.00001
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336 0.00001
NM_001161352.2(KCNMA1):c.1860-4G>T rs763267420 0.00001
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) rs200166976 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=) rs1445232499 0.00001
NM_001161352.2(KCNMA1):c.602+12A>G rs199818612 0.00001
NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu) rs142007193 0.00001
NM_004287.5(GOSR2):c.*2213G>T rs886053084 0.00001
NM_004287.5(GOSR2):c.*2589T>C rs886053087 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_005097.3(LGI1):c.-304C>T rs886047484 0.00001
NM_005097.4(LGI1):c.*282A>G rs1172545288 0.00001
NM_005097.4(LGI1):c.*59T>A rs886047488 0.00001
NM_005097.4(LGI1):c.135G>C (p.Val45=) rs768003944 0.00001
NM_018100.4(EFHC1):c.*2023T>C rs886061638 0.00001
NM_018100.4(EFHC1):c.*226A>G rs562067977 0.00001
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350 0.00001
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627 0.00001
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781 0.00001
NM_020361.5(CPA6):c.-76T>G rs886063083 0.00001
NM_020361.5(CPA6):c.1246C>T (p.Pro416Ser) rs759525269 0.00001
NM_020361.5(CPA6):c.1288A>G (p.Met430Val) rs774898194 0.00001
NM_020361.5(CPA6):c.140C>G (p.Pro47Arg) rs981686338 0.00001
NM_020361.5(CPA6):c.466C>T (p.His156Tyr) rs368127412 0.00001
NM_153033.5(KCTD7):c.*1123A>G rs886062418 0.00001
NM_153033.5(KCTD7):c.*1810C>T rs886062421 0.00001
NM_153033.5(KCTD7):c.*2322G>A rs886062423 0.00001
NM_153033.5(KCTD7):c.*2327T>C rs926998002 0.00001
NM_153033.5(KCTD7):c.*2822G>A rs533167133 0.00001
NM_153033.5(KCTD7):c.*365C>T rs1367502451 0.00001
NM_153033.5(KCTD7):c.*3700G>A rs1464418026 0.00001
NM_153033.5(KCTD7):c.*55C>T rs886062414 0.00001
NM_153033.5(KCTD7):c.*892C>T rs886062417 0.00001
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr) rs368018261 0.00001
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr) rs202167686 0.00001
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg) rs781725855 0.00001
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln) rs758709078 0.00001
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val) rs745360140 0.00001
NM_198586.3(NHLRC1):c.*537T>C rs935643502 0.00001
NM_198586.3(NHLRC1):c.*61C>A rs886061252 0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582 0.00001
NM_198859.4(PRICKLE2):c.*1292A>G rs934193331 0.00001
NM_198859.4(PRICKLE2):c.*1495T>C rs879297640 0.00001
NM_198859.4(PRICKLE2):c.*2089C>T rs577636282 0.00001
NM_198859.4(PRICKLE2):c.*4071A>G rs886058785 0.00001
NM_198859.4(PRICKLE2):c.*4196T>G rs1389084658 0.00001
NM_198859.4(PRICKLE2):c.*4330A>T rs538069337 0.00001
NM_198859.4(PRICKLE2):c.*943G>T rs953505615 0.00001
NM_198859.4(PRICKLE2):c.-13C>G rs750990245 0.00001
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989 0.00001
NM_198859.4(PRICKLE2):c.1334A>C (p.His445Pro) rs1162884450 0.00001
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) rs763974341 0.00001
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) rs766757910 0.00001
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe) rs886058801 0.00001
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417 0.00001
NM_198904.4(GABRG2):c.*119G>A rs1168516188 0.00001
NM_198904.4(GABRG2):c.*164C>A rs1765522712 0.00001
NM_198904.4(GABRG2):c.*1678A>G rs1196588654 0.00001
NM_198904.4(GABRG2):c.*32T>C rs749257839 0.00001
NM_198904.4(GABRG2):c.*367G>A rs1365753500 0.00001
NM_198904.4(GABRG2):c.*468T>G rs1167572595 0.00001
NM_198904.4(GABRG2):c.-114T>C rs886060379 0.00001
NM_198904.4(GABRG2):c.-196C>T rs1478556756 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His) rs587780341 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_000100.3(CSTB):c.*287G>A rs768173714
NM_000100.4(CSTB):c.*227A>G rs886057112
NM_000100.4(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000726.4(CACNB4):c.-57G>T rs886054971
NM_000726.5(CACNB4):c.*1501del rs886054963
NM_000726.5(CACNB4):c.*1501dup rs886054963
NM_000726.5(CACNB4):c.*151del rs79470866
NM_000726.5(CACNB4):c.*151dup rs79470866
NM_000726.5(CACNB4):c.*1635T>C rs886054962
NM_000726.5(CACNB4):c.*1826A>G rs886054959
NM_000726.5(CACNB4):c.*2542G>A rs886054957
NM_000726.5(CACNB4):c.*442_*443del rs886054966
NM_000726.5(CACNB4):c.*454del rs879114509
NM_000726.5(CACNB4):c.*454dup rs879114509
NM_000726.5(CACNB4):c.*4845T>C rs886054953
NM_000726.5(CACNB4):c.*5418T>C rs886054952
NM_000726.5(CACNB4):c.*5863T>G rs886054951
NM_000726.5(CACNB4):c.*5977G>T rs886054950
NM_000726.5(CACNB4):c.*5995dup rs886054949
NM_000726.5(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000742.3(CHRNA2):c.-563_-562dupTG rs796623573
NM_000742.3(CHRNA2):c.-576_-575insTA rs886062854
NM_000742.3(CHRNA2):c.-578_-573delATGTGT rs1554517016
NM_000742.3(CHRNA2):c.-581_-578delTGTA rs1554517018
NM_000742.3(CHRNA2):c.-601_-600TG[10] rs139814974
NM_000742.3(CHRNA2):c.-601_-600TG[12] rs139814974
NM_000742.3(CHRNA2):c.-601_-600TG[13] rs139814974
NM_000742.3(CHRNA2):c.-601_-600TG[14] rs139814974
NM_000742.4(CHRNA2):c.*1090C>T rs906182736
NM_000742.4(CHRNA2):c.*1395C>A rs886062841
NM_000742.4(CHRNA2):c.*1688G>C rs996594019
NM_000742.4(CHRNA2):c.*1707C>G rs533752912
NM_000742.4(CHRNA2):c.*1707C>T rs533752912
NM_000742.4(CHRNA2):c.*1769C>G rs1451704235
NM_000742.4(CHRNA2):c.*196G>T rs1267504386
NM_000742.4(CHRNA2):c.*348C>T rs930285465
NM_000742.4(CHRNA2):c.*479G>C rs574004327
NM_000742.4(CHRNA2):c.*662T>C rs1812461161
NM_000742.4(CHRNA2):c.*892T>A rs886062843
NM_000742.4(CHRNA2):c.-133C>T rs886062846
NM_000742.4(CHRNA2):c.-312G>T rs886062849
NM_000742.4(CHRNA2):c.-562GA[8] rs150699126
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu) rs1812582220
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) rs796052301
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly) rs886062844
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) rs778197366
NM_000742.4(CHRNA2):c.1464+4C>T rs1586388485
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro) rs548268816
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly) rs1563321069
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe) rs1812616489
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000816.3(GABRG2):c.-241A>C rs886060377
NM_000816.3(GABRG2):c.-268C>A rs886060375
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met) rs188724206
NM_001122752.2(SERPINI1):c.*172T>A rs886058170
NM_001122752.2(SERPINI1):c.*87A>G rs1712486520
NM_001122752.2(SERPINI1):c.-19+22G>T rs1559989168
NM_001122752.2(SERPINI1):c.-19+48C>T rs886058167
NM_001122752.2(SERPINI1):c.-19+6C>T rs562830304
NM_001122752.2(SERPINI1):c.-84GGAGC[3] rs886058165
NM_001122752.2(SERPINI1):c.1067-6C>T rs759360650
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val) rs769948709
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser) rs886058168
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val) rs1727567949
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly) rs886058169
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser) rs1172732406
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_001134407.3(GRIN2A):c.*1058T>A rs886052546
NM_001134407.3(GRIN2A):c.*1080C>T rs908516344
NM_001134407.3(GRIN2A):c.*1139C>G rs1900605780
NM_001134407.3(GRIN2A):c.*132T>C rs1900654710
NM_001134407.3(GRIN2A):c.*1432del rs569463295
NM_001134407.3(GRIN2A):c.*1472C>T rs901139151
NM_001134407.3(GRIN2A):c.*1475G>C rs1900587816
NM_001134407.3(GRIN2A):c.*1535C>T rs886052545
NM_001134407.3(GRIN2A):c.*1539T>G rs886052544
NM_001134407.3(GRIN2A):c.*1806G>A rs886052543
NM_001134407.3(GRIN2A):c.*1862G>A rs1900570922
NM_001134407.3(GRIN2A):c.*2556C>T rs886052541
NM_001134407.3(GRIN2A):c.*268G>A rs886052553
NM_001134407.3(GRIN2A):c.*2771_*2774dup rs35189803
NM_001134407.3(GRIN2A):c.*2773_*2774dup rs35189803
NM_001134407.3(GRIN2A):c.*2775_*2776insA rs886052539
NM_001134407.3(GRIN2A):c.*2835C>T rs886052538
NM_001134407.3(GRIN2A):c.*286A>G rs886052552
NM_001134407.3(GRIN2A):c.*29G>A rs1273875562
NM_001134407.3(GRIN2A):c.*3166C>T rs886052537
NM_001134407.3(GRIN2A):c.*3341T>C rs576585646
NM_001134407.3(GRIN2A):c.*3396T>G rs886052536
NM_001134407.3(GRIN2A):c.*3437C>T rs1900495330
NM_001134407.3(GRIN2A):c.*3523C>A rs559488090
NM_001134407.3(GRIN2A):c.*3543G>C rs886052535
NM_001134407.3(GRIN2A):c.*3982C>T rs1900476940
NM_001134407.3(GRIN2A):c.*4097G>A rs1900471744
NM_001134407.3(GRIN2A):c.*4415T>C rs1900458100
NM_001134407.3(GRIN2A):c.*4462A>G rs1900456163
NM_001134407.3(GRIN2A):c.*5109G>C rs886052534
NM_001134407.3(GRIN2A):c.*5248G>A rs1451890952
NM_001134407.3(GRIN2A):c.*542_*544del rs760275969
NM_001134407.3(GRIN2A):c.*545G>C rs886052551
NM_001134407.3(GRIN2A):c.*5775dup rs202247656
NM_001134407.3(GRIN2A):c.*5790del rs74985384
NM_001134407.3(GRIN2A):c.*6013T>C rs532316934
NM_001134407.3(GRIN2A):c.*6042A>C rs780823999
NM_001134407.3(GRIN2A):c.*6180G>A rs961703607
NM_001134407.3(GRIN2A):c.*650C>G rs886052549
NM_001134407.3(GRIN2A):c.*6528A>G rs1380116191
NM_001134407.3(GRIN2A):c.*6599T>C rs886052530
NM_001134407.3(GRIN2A):c.*6659G>A rs886052529
NM_001134407.3(GRIN2A):c.*6685G>C rs1567268666
NM_001134407.3(GRIN2A):c.*6750T>C rs1420959204
NM_001134407.3(GRIN2A):c.*6760G>A rs886052528
NM_001134407.3(GRIN2A):c.*6774T>A rs1900349387
NM_001134407.3(GRIN2A):c.*678G>A rs886052548
NM_001134407.3(GRIN2A):c.*6897del rs886052527
NM_001134407.3(GRIN2A):c.*6932T>C rs1900343585
NM_001134407.3(GRIN2A):c.*7009CA[9] rs113553391
NM_001134407.3(GRIN2A):c.*7112A>C rs143274147
NM_001134407.3(GRIN2A):c.*7278G>T rs886052524
NM_001134407.3(GRIN2A):c.*7293del rs58903398
NM_001134407.3(GRIN2A):c.*7379A>G rs886052522
NM_001134407.3(GRIN2A):c.*8156A>G rs886052519
NM_001134407.3(GRIN2A):c.*815G>A rs1266556633
NM_001134407.3(GRIN2A):c.*8626G>C rs886052515
NM_001134407.3(GRIN2A):c.*8781G>A rs886052514
NM_001134407.3(GRIN2A):c.*9207G>A rs886052513
NM_001134407.3(GRIN2A):c.*9255C>G rs1900261434
NM_001134407.3(GRIN2A):c.*9392T>C rs970217798
NM_001134407.3(GRIN2A):c.-34C>G rs564039694
NM_001134407.3(GRIN2A):c.-66C>A rs956482196
NM_001134407.3(GRIN2A):c.1013T>A (p.Met338Lys) rs2043686499
NM_001134407.3(GRIN2A):c.1128C>T (p.Gly376=) rs2042854084
NM_001134407.3(GRIN2A):c.125A>G (p.His42Arg) rs2050238895
NM_001134407.3(GRIN2A):c.1263C>T (p.Asp421=) rs781215527
NM_001134407.3(GRIN2A):c.1317C>G (p.Phe439Leu) rs752012396
NM_001134407.3(GRIN2A):c.1326C>G (p.Ile442Met) rs2042847762
NM_001134407.3(GRIN2A):c.1498-14_1498-13del rs1491547779
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=) rs1057523027
NM_001134407.3(GRIN2A):c.2572G>A (p.Gly858Arg) rs1901083292
NM_001134407.3(GRIN2A):c.2595+12G>A rs746566593
NM_001134407.3(GRIN2A):c.2595+3C>T rs1901081977
NM_001134407.3(GRIN2A):c.2864T>C (p.Ile955Thr) rs778404336
NM_001134407.3(GRIN2A):c.3504C>T (p.Asn1168=) rs999523910
NM_001134407.3(GRIN2A):c.3635C>T (p.Thr1212Met) rs1042202486
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met) rs367543132
NM_001134407.3(GRIN2A):c.568A>G (p.Thr190Ala) rs886051634
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser) rs901717931
NM_001161352.2(KCNMA1):c.*1022TTTG[1] rs755720081
NM_001161352.2(KCNMA1):c.*1131C>A rs2036799787
NM_001161352.2(KCNMA1):c.*1165C>T rs886047262
NM_001161352.2(KCNMA1):c.*1507G>A rs1430842020
NM_001161352.2(KCNMA1):c.*1739G>T rs184468198
NM_001161352.2(KCNMA1):c.*1935A>G rs886047260
NM_001161352.2(KCNMA1):c.*1937T>G rs886047259
NM_001161352.2(KCNMA1):c.*2015TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*223A>G rs886047267
NM_001161352.2(KCNMA1):c.*2373dup rs552322812
NM_001161352.2(KCNMA1):c.*411GTT[4] rs879619415
NM_001161352.2(KCNMA1):c.*429CTTT[2] rs886047266
NM_001161352.2(KCNMA1):c.*539T>C rs886047265
NM_001161352.2(KCNMA1):c.*570T>C rs886047264
NM_001161352.2(KCNMA1):c.*69A>G rs2037466690
NM_001161352.2(KCNMA1):c.-104_-96dup rs1555529241
NM_001161352.2(KCNMA1):c.-116GGC[7] rs781056387
NM_001161352.2(KCNMA1):c.-131C>T rs575507832
NM_001161352.2(KCNMA1):c.-57G>T rs886047271
NM_001161352.2(KCNMA1):c.1131+11dup rs545073914
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1593+11G>T rs199674898
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) rs886047269
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_004287.4(GOSR2):c.-64G>T rs886053076
NM_004287.5(GOSR2):c.*1105A>T rs780111337
NM_004287.5(GOSR2):c.*2068C>G rs886053082
NM_004287.5(GOSR2):c.*2190TC[2] rs553512648
NM_004287.5(GOSR2):c.*2573G>A rs886053086
NM_004287.5(GOSR2):c.*286G>T rs78693564
NM_004287.5(GOSR2):c.*332A>G rs886053079
NM_004287.5(GOSR2):c.*412C>A rs886053080
NM_004287.5(GOSR2):c.*804A>G rs886053081
NM_004287.5(GOSR2):c.-20T>G rs886053077
NM_004287.5(GOSR2):c.-7C>G rs760018200
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg) rs1564332523
NM_005097.4(LGI1):c.*338G>C rs182654305
NM_005097.4(LGI1):c.-66G>C rs886047485
NM_005097.4(LGI1):c.1125G>C (p.Ala375=) rs886047487
NM_005097.4(LGI1):c.568C>T (p.His190Tyr) rs1345126535
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln) rs750249658
NM_005097.4(LGI1):c.838+11C>T rs886047486
NM_006545.5(NPRL2):c.472A>G (p.Lys158Glu) rs1703653579
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[13] rs59794069
NM_018100.4(EFHC1):c.*1025AT[14] rs59794069
NM_018100.4(EFHC1):c.*1025AT[19] rs59794069
NM_018100.4(EFHC1):c.*1025AT[20] rs59794069
NM_018100.4(EFHC1):c.*1025AT[21] rs59794069
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1064AC[4] rs886061634
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481TC[1] rs886061636
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*549TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_020361.4(CPA6):c.-222_-220delGCT rs144013159
NM_020361.5(CPA6):c.-160del rs796925267
NM_020361.5(CPA6):c.-203C>T rs1587747750
NM_020361.5(CPA6):c.-45C>A rs767794744
NM_020361.5(CPA6):c.-87C>A rs559634854
NM_020361.5(CPA6):c.109T>C (p.Tyr37His) rs886063082
NM_020361.5(CPA6):c.1127-25_1127-24dup rs60236534
NM_020361.5(CPA6):c.1127-25dup rs60236534
NM_020361.5(CPA6):c.116+11C>A rs141229869
NM_020361.5(CPA6):c.20G>A (p.Arg7His) rs373565150
NM_020361.5(CPA6):c.26G>A (p.Gly9Asp) rs1818003481
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.453T>C (p.His151=) rs1812002711
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) rs267601975
NM_020361.5(CPA6):c.538G>A (p.Gly180Ser) rs886063080
NM_020361.5(CPA6):c.715A>G (p.Asn239Asp) rs886063079
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020822.3(KCNT1):c.1049T>C (p.Val350Ala) rs1329791962
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) rs1161862851
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
NM_153026.3(PRICKLE1):c.*552del rs68074167
NM_153033.5(KCTD7):c.*1293A>G rs886062419
NM_153033.5(KCTD7):c.*1334T>C rs1786692699
NM_153033.5(KCTD7):c.*1740G>A rs886062420
NM_153033.5(KCTD7):c.*1911C>G rs565110569
NM_153033.5(KCTD7):c.*2163C>T rs375853768
NM_153033.5(KCTD7):c.*2175C>A rs369221941
NM_153033.5(KCTD7):c.*2223_*2226dup rs886062422
NM_153033.5(KCTD7):c.*2692A>G rs573138370
NM_153033.5(KCTD7):c.*2837G>A rs1786731447
NM_153033.5(KCTD7):c.*2868C>T rs886062426
NM_153033.5(KCTD7):c.*2973G>A rs1786735065
NM_153033.5(KCTD7):c.*354C>G rs540871291
NM_153033.5(KCTD7):c.*3730C>T rs1786753910
NM_153033.5(KCTD7):c.*690G>A rs4718382
NM_153033.5(KCTD7):c.*860CCT[1] rs886062416
NM_153033.5(KCTD7):c.-145C>G rs886062409
NM_153033.5(KCTD7):c.-170G>T rs191169882
NM_153033.5(KCTD7):c.-87A>C rs886062411
NM_153033.5(KCTD7):c.18G>C (p.Gly6=) rs886062413
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn) rs2116775565
NM_198586.3(NHLRC1):c.*153A>T rs895212001
NM_198586.3(NHLRC1):c.*175T>C rs1783727115
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*327G>C rs375143655
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln) rs764691077
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg) rs1783745635
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
NM_198859.4(PRICKLE2):c.*1157G>C rs764784009
NM_198859.4(PRICKLE2):c.*1274C>T rs952345194
NM_198859.4(PRICKLE2):c.*1476A>G rs886058793
NM_198859.4(PRICKLE2):c.*1508A>G rs2076588182
NM_198859.4(PRICKLE2):c.*1560C>T rs886058792
NM_198859.4(PRICKLE2):c.*1621A>G rs2076586727
NM_198859.4(PRICKLE2):c.*1647T>A rs2076586208
NM_198859.4(PRICKLE2):c.*1682C>T rs938048041
NM_198859.4(PRICKLE2):c.*1964C>T rs886058790
NM_198859.4(PRICKLE2):c.*1970T>C rs886058789
NM_198859.4(PRICKLE2):c.*2102G>A rs2076579772
NM_198859.4(PRICKLE2):c.*2207C>T rs886058788
NM_198859.4(PRICKLE2):c.*2288C>T rs866060288
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT rs386661734
NM_198859.4(PRICKLE2):c.*2391C>T rs184544359
NM_198859.4(PRICKLE2):c.*2666G>T rs2076573078
NM_198859.4(PRICKLE2):c.*2782C>G rs530804190
NM_198859.4(PRICKLE2):c.*2856C>G rs886058787
NM_198859.4(PRICKLE2):c.*2980_*2981dup rs759645403
NM_198859.4(PRICKLE2):c.*3065C>A rs1345198796
NM_198859.4(PRICKLE2):c.*3343G>A rs911667034
NM_198859.4(PRICKLE2):c.*3358T>A rs2076562693
NM_198859.4(PRICKLE2):c.*3496G>A rs2076560882
NM_198859.4(PRICKLE2):c.*3501C>G rs1358772449
NM_198859.4(PRICKLE2):c.*3755A>T rs756531877
NM_198859.4(PRICKLE2):c.*3862C>A rs886058786
NM_198859.4(PRICKLE2):c.*4182T>C rs2076548758
NM_198859.4(PRICKLE2):c.*4257T>C rs886058783
NM_198859.4(PRICKLE2):c.*4595T>A rs886058782
NM_198859.4(PRICKLE2):c.*4787T>C rs886058781
NM_198859.4(PRICKLE2):c.*4861dup rs571451772
NM_198859.4(PRICKLE2):c.*4877C>T rs750274826
NM_198859.4(PRICKLE2):c.*580del rs370988517
NM_198859.4(PRICKLE2):c.*581dup rs886058797
NM_198859.4(PRICKLE2):c.*582A>T rs886058796
NM_198859.4(PRICKLE2):c.*584del rs886058795
NM_198859.4(PRICKLE2):c.*792dup rs535354956
NM_198859.4(PRICKLE2):c.*995C>A rs886058794
NM_198859.4(PRICKLE2):c.-219A>G rs2079012814
NM_198859.4(PRICKLE2):c.-287A>G rs867607794
NM_198859.4(PRICKLE2):c.-320A>C rs886058804
NM_198859.4(PRICKLE2):c.-552G>C rs2079017666
NM_198859.4(PRICKLE2):c.-573CCA[1] rs886058807
NM_198859.4(PRICKLE2):c.-89G>C rs901964486
NM_198859.4(PRICKLE2):c.1263G>T (p.Gln421His) rs2077471398
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser) rs886058799
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=) rs886058798
NM_198859.4(PRICKLE2):c.2100C>G (p.His700Gln) rs2076619261
NM_198859.4(PRICKLE2):c.531A>G (p.Gln177=) rs780089157
NM_198904.4(GABRG2):c.*1392A>T rs886060386
NM_198904.4(GABRG2):c.*1763A>T rs886060387
NM_198904.4(GABRG2):c.*1838T>A rs1039081493
NM_198904.4(GABRG2):c.*1889C>A rs886060388
NM_198904.4(GABRG2):c.*194G>A rs758832535
NM_198904.4(GABRG2):c.*1981G>C rs886060389
NM_198904.4(GABRG2):c.*250A>C rs886060384
NM_198904.4(GABRG2):c.-179T>A rs886060378
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.303T>C (p.Ile101=) rs1760937526
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157

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