ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 42 by Center of Human Genetics, Hôpital Erasme

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) rs886037945
NM_001127222.2(CACNA1A):c.4887G>A (p.Trp1629Ter)

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