ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 69 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) rs762766720 0.00006
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe) rs576927174 0.00001
NM_001205293.3(CACNA1E):c.110C>G (p.Ala37Gly)
NM_001205293.3(CACNA1E):c.133C>G (p.Gln45Glu)
NM_001205293.3(CACNA1E):c.1621A>G (p.Asn541Asp) rs2528521795
NM_001205293.3(CACNA1E):c.2278G>A (p.Glu760Lys) rs2528676138
NM_001205293.3(CACNA1E):c.2740C>T (p.His914Tyr) rs2528699354
NM_001205293.3(CACNA1E):c.3190A>G (p.Thr1064Ala) rs2528714861
NM_001205293.3(CACNA1E):c.6869G>T (p.Gly2290Val)

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