ClinVar Miner

List of variants reported as likely pathogenic for Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.241-1G>A
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu) rs2140536974
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) rs78196007
NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser)
NM_000814.6(GABRB3):c.545-2A>G
NM_000814.6(GABRB3):c.758C>A (p.Pro253His) rs1064796514
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr) rs1057519549
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) rs1057518036
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) rs1595440443
NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) rs1567106381
NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu) rs1889966534
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) rs1889965425
NM_000814.6(GABRB3):c.982A>C (p.Asn328His) rs2140679963

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