ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 45 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser)	rs886039817
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr)	rs1728474004
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	rs886039818

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