ClinVar Miner

List of variants reported for Developmental and epileptic encephalopathy, 67 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015267.4(CUX2):c.1486G>C (p.Ala496Pro)
NM_015267.4(CUX2):c.167T>C (p.Val56Ala) rs1881409057
NM_015267.4(CUX2):c.2435C>T (p.Ser812Phe)
NM_015267.4(CUX2):c.2482G>C (p.Asp828His) rs1887467909
NM_015267.4(CUX2):c.485G>C (p.Ser162Thr)

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