ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.1080+15A>G rs3751582 0.34839
NM_021912.5(GABRB3):c.75C>T (p.Pro25=) rs20318 0.14900
NM_000814.6(GABRB3):c.240+13C>T rs8179186 0.12842
NM_000814.6(GABRB3):c.783G>A (p.Ser261=) rs76812964 0.02298
NM_000814.6(GABRB3):c.603C>T (p.Thr201=) rs75965657 0.01810
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_000814.6(GABRB3):c.80+11G>A rs368259836 0.00027
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_000814.6(GABRB3):c.1058G>A (p.Arg353His) rs200057173 0.00018
NC_000015.10:g.26773866C>A rs563217194 0.00012
NM_000814.6(GABRB3):c.241-7465G>A rs990895163 0.00004
NM_000814.6(GABRB3):c.173-13G>C rs371144939 0.00002
NM_021912.5(GABRB3):c.80+10G>A rs763316211 0.00002
NM_000814.6(GABRB3):c.348A>G (p.Leu116=) rs758378648 0.00001
NC_000015.10:g.26773790G>C rs20317
NC_000015.10:g.26774621A>G
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1081-13del rs755203442
NM_000814.6(GABRB3):c.1261C>T (p.Leu421Phe)
NM_000814.6(GABRB3):c.20G>A (p.Gly7Glu)
NM_000814.6(GABRB3):c.241-14del
NM_000814.6(GABRB3):c.241-3del rs760251280
NM_000814.6(GABRB3):c.241-3dup rs760251280
NM_000814.6(GABRB3):c.25C>A (p.Leu9Ile)

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