ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 69 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val) rs1654707104
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn) rs1662014050

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