ClinVar Miner

List of variants studied for epilepsy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598 0.00006
NM_007198.4(PLPBP):c.320-2A>G rs1057519424 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp) rs1692549700
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001353345.2(SETD1B):c.1526_1527del (p.Glu509fs) rs1592977444
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_006545.5(NPRL2):c.445_448+3del rs1575562076
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs) rs755595256
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.656del (p.Gly219fs) rs1573721242
NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
Single allele

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