ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 43 by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) rs121913125 0.00004
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) rs369581041
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425

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