ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly) rs1761011834
NM_001037343.1:c.100-?_744+?dup
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) rs1553567561
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile) rs1554086436
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro) rs1698009615
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle) rs1697127484
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe) rs121917913
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4477-3T>A rs1690013843
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) rs1689271992
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) rs2105430494
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro) rs2105890296
NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile) rs2112768468
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) rs1928358562
NM_001242896.3(DEPDC5):c.2354+2T>A rs2148953712
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys) rs2124905696
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
NM_003042.4(SLC6A1):c.715-1G>C
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro) rs2124924511
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_005097.4(LGI1):c.215+2T>A rs2059586444
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) rs2124446500
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
NM_031844.3(HNRNPU):c.2425-2A>T rs1553281924
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) rs2145922320
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576
NM_198904.4(GABRG2):c.259+5G>T rs2113298784

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