ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 78 by Pediatric Neurology, Shengjing Hospital of China Medical University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000807.4(GABRA2):c.166C>T (p.Arg56Trp)	rs1308837249
NM_000807.4(GABRA2):c.460C>G (p.Leu154Val)
NM_000807.4(GABRA2):c.644T>C (p.Leu215Ser)
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)

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