ClinVar Miner

List of variants studied for Generalized epilepsy with febrile seizures plus

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_198904.4(GABRG2):c.*2120_*2121del rs34705786 0.24370
NM_001365536.1(SCN9A):c.2875-5del rs774840081 0.00011
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579 0.00003
NM_001365536.1(SCN9A):c.*2744del rs763459885 0.00002
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_080552.3(SLC32A1):c.1333C>T (p.Leu445Phe) rs1276643179 0.00001
NM_001040142.2(SCN2A):c.1528_1533del (p.Gln510_Lys511del) rs2105259847
NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro) rs1559200901
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1465T>G (p.Ser489Ala) rs1697749010
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_052874.5(STX1B):c.286G>T (p.Glu96Ter) rs2143671037
NM_080552.3(SLC32A1):c.127G>T (p.Gly43Cys) rs2084268435
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) rs2084286884
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
NM_080552.3(SLC32A1):c.1393G>A (p.Gly465Ser) rs2084286949
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) rs2084286998
NM_080552.3(SLC32A1):c.788T>C (p.Val263Ala) rs2084283325
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) rs2084284179
NM_198904.4(GABRG2):c.-4del rs771282908
NM_198904.4(GABRG2):c.-4dup rs771282908

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