ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1A>T (p.Met1Leu)

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