ClinVar Miner

List of variants reported for Developmental and epileptic encephalopathy, 69 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.3263-15G>A rs11808627 0.02783
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His) rs372520364 0.00006
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val) rs772170723 0.00001
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln) rs758936777

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