ClinVar Miner

List of variants studied for Epilepsy, childhood absence, susceptibility to, 5

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) rs2140199587
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro) rs797045045
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) rs1555401942
NM_000814.6(GABRB3):c.880C>T (p.Arg294Trp)
NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) rs1889966666
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682

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