ClinVar Miner

List of variants reported as pathogenic for Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.(?_25862297)_(26937328_?)del
NC_000015.10:g.(?_26547773)_(26775295_?)del
NC_000015.10:g.(?_26567561)_(26629023_?)del
NC_000015.9:g.(?_26107444)_(28230334_?)del
NC_000015.9:g.(?_26792940)_(26828581_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)del
NC_000015.9:g.(?_26792940)_(27018109_?)del
NC_000015.9:g.(?_26792940)_(27020442_?)del
NC_000015.9:g.(?_26866441)_(26866701_?)del
NC_000015.9:g.(?_27017529)_(27018109_?)del
NM_000814.6(GABRB3):c.1054del (p.Asp352fs) rs1889959221
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val) rs1057524415
NM_000814.6(GABRB3):c.172+1del rs1891185645
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu) rs72708067
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser) rs2140537271
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) rs942355738
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.374del (p.Asn125fs) rs2140536988
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000814.6(GABRB3):c.405_406del (p.Val136fs) rs2140536878
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) rs1892476410
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met) rs2140737885
NM_000814.6(GABRB3):c.47del (p.Pro16fs)
NM_000814.6(GABRB3):c.487A>G (p.Met163Val) rs1060502666
NM_000814.6(GABRB3):c.499A>T (p.Arg167Ter)
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) rs1060502665
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys) rs2504205415
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) rs1131691481
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter) rs1891196840
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) rs1890229008
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_000814.6(GABRB3):c.794dup (p.Trp266fs)
NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr) rs2504172140
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg) rs746425161
NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter) rs1889964880
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter) rs2504153232

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