ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by New York Genome Center

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs) rs774562545 0.00001
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs) rs1812608825
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro) rs2131501072
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) rs2147537859
NM_001242896.3(DEPDC5):c.1324+1G>T rs2088011240
NM_001242896.3(DEPDC5):c.687del (p.Lys229fs)
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.4560del (p.Ser1521fs) rs2054360719
NM_001278512.2(AP3B2):c.66C>G (p.Tyr22Ter) rs1304104449
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001324418.2(ADAM22):c.1981dup (p.Met661fs) rs1842129329
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala) rs1592162415
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val) rs1580984895
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe) rs2124926302
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004855.5(PIGB):c.795-1G>C rs1163732372
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_006180.6(NTRK2):c.1279G>T (p.Gly427Cys) rs142393662
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter) rs2109365845
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_018129.4(PNPO):c.418-1G>C rs2144165139
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
Single allele

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