ClinVar Miner

List of variants reported as uncertain significance for genetic generalized epilepsy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 336
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*1024C>T rs372975445 0.03953
NM_001127644.2(GABRA1):c.*1697A>G rs75337618 0.01133
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.*2035G>A rs73317010 0.00933
NM_001127644.2(GABRA1):c.-16+8C>A rs138671319 0.00544
NM_018100.3(EFHC1):c.-162C>T rs41273738 0.00472
NM_001127644.2(GABRA1):c.*1381T>C rs187522588 0.00463
NM_001127644.2(GABRA1):c.*2098C>T rs147837301 0.00428
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.*1821T>G rs10059108 0.00427
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.*896C>T rs112311115 0.00399
NM_000806.5(GABRA1):c.-449G>C rs190043578 0.00355
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_001127644.2(GABRA1):c.*2523A>C rs567624810 0.00224
NM_018100.4(EFHC1):c.*1876T>G rs148070071 0.00194
NM_001165963.4(SCN1A):c.*677G>A rs142037381 0.00181
NM_001127644.2(GABRA1):c.*988A>G rs182930988 0.00140
NM_001127644.2(GABRA1):c.-162G>A rs547029877 0.00121
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_018100.4(EFHC1):c.*99T>A rs151292895 0.00110
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001127644.2(GABRA1):c.*1752G>T rs41303356 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.255+12C>T rs144727170 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_000806.5(GABRA1):c.-405T>C rs181962869 0.00059
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_001165963.4(SCN1A):c.*774G>A rs570379164 0.00054
NM_018100.4(EFHC1):c.*527C>T rs540732861 0.00050
NM_001165963.4(SCN1A):c.*1152A>G rs911171545 0.00049
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001127644.2(GABRA1):c.*630T>C rs578077816 0.00046
NM_001127644.2(GABRA1):c.*401G>A rs541504060 0.00041
NM_000726.5(CACNB4):c.*592T>C rs779110885 0.00039
NM_001127644.2(GABRA1):c.*433G>C rs140183311 0.00038
NM_198904.4(GABRG2):c.*1427C>T rs375013278 0.00037
NM_198904.4(GABRG2):c.*296G>T rs1025917717 0.00035
NM_198904.4(GABRG2):c.*247T>C rs371389067 0.00032
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_018100.4(EFHC1):c.*1576C>A rs547537212 0.00029
NM_000726.5(CACNB4):c.*1952C>A rs764877003 0.00026
NM_198904.4(GABRG2):c.*422C>T rs752382943 0.00026
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_001037.5(SCN1B):c.-88A>C rs886054341 0.00022
NM_001127644.2(GABRA1):c.*1781T>C rs952357734 0.00022
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001037.5(SCN1B):c.*377C>T rs376707835 0.00021
NM_001165963.4(SCN1A):c.*1795G>A rs189183531 0.00021
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_198904.4(GABRG2):c.*374A>G rs573126853 0.00021
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_001127644.2(GABRA1):c.*1601T>G rs886060369 0.00019
NM_018100.4(EFHC1):c.*681G>A rs560182875 0.00019
NM_198904.4(GABRG2):c.*384C>T rs773854777 0.00019
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_198904.4(GABRG2):c.*1468A>G rs372041761 0.00016
NM_001127644.2(GABRA1):c.*398A>C rs374845401 0.00015
NM_001165963.4(SCN1A):c.*129T>G rs886055040 0.00015
NM_001037.5(SCN1B):c.*50C>T rs925616600 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_000816.3(GABRG2):c.-282C>T rs772816792 0.00013
NM_001165963.4(SCN1A):c.*797T>C rs550647308 0.00013
NM_001127644.2(GABRA1):c.*1324T>C rs866632459 0.00012
NM_001127644.2(GABRA1):c.*1426A>G rs952390349 0.00012
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_018100.4(EFHC1):c.*2211C>T rs753392817 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 0.00011
NM_000726.5(CACNB4):c.*4145T>C rs781255950 0.00011
NM_001127644.2(GABRA1):c.*1984T>C rs1015675139 0.00011
NM_001127644.2(GABRA1):c.-252T>C rs766490931 0.00011
NM_001165963.4(SCN1A):c.*1366A>T rs959627960 0.00011
NM_001165963.4(SCN1A):c.*1989C>T rs371391758 0.00011
NM_001165963.4(SCN1A):c.*460A>C rs746164130 0.00011
NM_001165963.4(SCN1A):c.*553G>A rs771107716 0.00011
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928 0.00011
NM_001127644.2(GABRA1):c.-220T>C rs186477194 0.00010
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_000726.5(CACNB4):c.*1937T>G rs758893086 0.00009
NM_000726.5(CACNB4):c.*4919G>A rs763593694 0.00009
NM_000726.5(CACNB4):c.*5487T>C rs111700454 0.00009
NM_001037.5(SCN1B):c.-123A>T rs1034432673 0.00008
NM_001127644.2(GABRA1):c.*2009G>C rs139565984 0.00008
NM_001127644.2(GABRA1):c.*2279G>A rs575186628 0.00008
NM_001127644.2(GABRA1):c.*456C>T rs945683052 0.00008
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_018100.4(EFHC1):c.*2430C>T rs749445189 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
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_001127644.2(GABRA1):c.*213C>T rs886060362 0.00006
NM_001165963.4(SCN1A):c.2176+11A>C rs201604887 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 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_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_001127644.2(GABRA1):c.*1512G>A rs886060368 0.00005
NM_001127644.2(GABRA1):c.*413G>A rs886060365 0.00005
NM_001127644.2(GABRA1):c.*771C>T rs886060366 0.00005
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_001165963.4(SCN1A):c.*186G>A rs948256829 0.00005
NM_001165963.4(SCN1A):c.*458G>A rs772641408 0.00005
NM_198904.4(GABRG2):c.*239C>G rs889255383 0.00005
NM_000726.5(CACNB4):c.*4081G>A rs148903851 0.00004
NM_000806.5(GABRA1):c.-439A>G rs886060357 0.00004
NM_001037.5(SCN1B):c.-132C>G rs886054339 0.00004
NM_001127644.2(GABRA1):c.*438A>C rs1041886081 0.00004
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384 0.00004
NM_198904.4(GABRG2):c.*1407T>A rs748908802 0.00004
NM_000726.5(CACNB4):c.*5122C>T rs187940787 0.00003
NM_001037.5(SCN1B):c.-93G>C rs886054340 0.00003
NM_001127644.2(GABRA1):c.*1685C>T rs1442411830 0.00003
NM_001127644.2(GABRA1):c.*325T>A rs76047934 0.00003
NM_001127644.2(GABRA1):c.*993C>T rs1013417216 0.00003
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) rs747927213 0.00003
NM_001165963.4(SCN1A):c.*1794C>T rs922803278 0.00003
NM_001165963.4(SCN1A):c.*1950G>A rs773354801 0.00003
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771 0.00003
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579 0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_198904.4(GABRG2):c.*1320G>A rs886060385 0.00003
NM_198904.4(GABRG2):c.-217C>G rs748771306 0.00003
NM_000726.5(CACNB4):c.*3387C>G rs886054955 0.00002
NM_000806.5(GABRA1):c.-455G>A rs531705924 0.00002
NM_000816.3(GABRG2):c.-250C>T rs886060376 0.00002
NM_001037.5(SCN1B):c.*378G>A rs1462739595 0.00002
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.636G>A (p.Thr212=) rs763715229 0.00002
NM_001127644.2(GABRA1):c.*1061T>C rs374002978 0.00002
NM_001127644.2(GABRA1):c.*1425T>C rs919551233 0.00002
NM_001127644.2(GABRA1):c.*1609A>C rs1231156247 0.00002
NM_001127644.2(GABRA1):c.477-14A>G rs757378039 0.00002
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys) rs778852888 0.00002
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=) rs764174474 0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val) rs772487501 0.00002
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240 0.00002
NM_001365536.1(SCN9A):c.*2744del rs763459885 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_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_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.1278T>C (p.Tyr426=) rs376015337 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
NM_000816.3(GABRG2):c.-334C>T rs886060374 0.00001
NM_000816.3(GABRG2):c.-355A>C rs1241101902 0.00001
NM_001037.5(SCN1B):c.*305C>T rs950244470 0.00001
NM_001037.5(SCN1B):c.-31G>A rs776361009 0.00001
NM_001037.5(SCN1B):c.150C>T (p.Asn50=) rs147073518 0.00001
NM_001127644.2(GABRA1):c.*1359T>C rs1164629079 0.00001
NM_001127644.2(GABRA1):c.*1686G>A rs1561590547 0.00001
NM_001127644.2(GABRA1):c.*1971T>C rs886060372 0.00001
NM_001127644.2(GABRA1):c.*2334C>T rs886060373 0.00001
NM_001127644.2(GABRA1):c.*838G>A rs940074128 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.856+11A>G rs564871157 0.00001
NM_001127644.2(GABRA1):c.857-5T>C rs543710675 0.00001
NM_001165963.4(SCN1A):c.*1121T>C rs886055034 0.00001
NM_001165963.4(SCN1A):c.*1297G>A rs1030491723 0.00001
NM_001165963.4(SCN1A):c.*1482G>A rs886055033 0.00001
NM_001165963.4(SCN1A):c.*259T>C rs886055039 0.00001
NM_001165963.4(SCN1A):c.*374T>C rs1466790566 0.00001
NM_001165963.4(SCN1A):c.*515G>T rs1268496047 0.00001
NM_001165963.4(SCN1A):c.*912T>A rs886055036 0.00001
NM_001165963.4(SCN1A):c.*926C>T rs751306912 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg) rs753050564 0.00001
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) rs570326929 0.00001
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=) rs575554223 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.4002G>A (p.Arg1334=) rs751215933 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln) rs777631884 0.00001
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747 0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) rs374555589 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038 0.00001
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223 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_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_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_000806.5(GABRA1):c.-248+5C>T rs932077882
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-399C>T rs1581171032
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000806.5(GABRA1):c.-447G>C rs184629690
NM_000806.5(GABRA1):c.-447G>T rs184629690
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_000816.3(GABRG2):c.-241A>C rs886060377
NM_000816.3(GABRG2):c.-268C>A rs886060375
NM_001037.5(SCN1B):c.*464C>G rs72550264
NM_001037.5(SCN1B):c.*486C>T rs2064280155
NM_001037.5(SCN1B):c.*553C>T rs2064280962
NM_001037.5(SCN1B):c.-72G>A rs1568347863
NM_001127644.2(GABRA1):c.*1319A>G rs886060367
NM_001127644.2(GABRA1):c.*1443A>G rs575959204
NM_001127644.2(GABRA1):c.*1526A>G rs540638714
NM_001127644.2(GABRA1):c.*1611G>A rs903295997
NM_001127644.2(GABRA1):c.*1659A>G rs886060370
NM_001127644.2(GABRA1):c.*1749T>C rs1755506626
NM_001127644.2(GABRA1):c.*1837C>G rs886060371
NM_001127644.2(GABRA1):c.*1938A>G rs1755514760
NM_001127644.2(GABRA1):c.*242C>G rs1755432560
NM_001127644.2(GABRA1):c.*302A>G rs886060364
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.*580G>A rs534982201
NM_001127644.2(GABRA1):c.*580G>T rs534982201
NM_001127644.2(GABRA1):c.*826G>A rs957754896
NM_001127644.2(GABRA1):c.-10C>G rs376699435
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.-15-5T>G rs1757413235
NM_001127644.2(GABRA1):c.-195A>G rs886060359
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met) rs145217327
NM_001127644.2(GABRA1):c.191G>A (p.Arg64His) rs1753807587
NM_001127644.2(GABRA1):c.234A>C (p.Gly78=) rs1753809692
NM_001127644.2(GABRA1):c.243A>C (p.Ser81=) rs1362339390
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001165963.4(SCN1A):c.*1125T>G rs1688938789
NM_001165963.4(SCN1A):c.*1144G>C rs1688934031
NM_001165963.4(SCN1A):c.*1325G>A rs1688909719
NM_001165963.4(SCN1A):c.*977T>C rs886055035
NM_001165963.4(SCN1A):c.2044-14A>T rs537722606
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) rs886055045
NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro) rs1559200901
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) rs886055044
NM_001165963.4(SCN1A):c.3551-12C>T rs1692905818
NM_001165963.4(SCN1A):c.384-5C>T rs781505393
NM_001165963.4(SCN1A):c.3880-10G>C rs886055043
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) rs886055046
NM_001165963.4(SCN1A):c.5901C>A (p.Asn1967Lys) rs1689106949
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
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_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.-4del rs771282908
NM_198904.4(GABRG2):c.-4dup rs771282908
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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