ClinVar Miner

List of variants studied for Focal epilepsy

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535 0.02277
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00068
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_021098.3(CACNA1H):c.1546C>T (p.His516Tyr) rs1057519554 0.00001
NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly) rs1057519525
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met) rs776673140
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) rs1057519543
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001242896.3(DEPDC5):c.1021G>T (p.Gly341Cys) rs767594913
NM_001242896.3(DEPDC5):c.1838A>G (p.Asn613Ser) rs2089445867
NM_001242896.3(DEPDC5):c.4493A>G (p.Asn1498Ser)
NM_001242896.3(DEPDC5):c.4748G>A (p.Arg1583His) rs2093761069
NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter) rs1057519541
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691

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