ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)

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