ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 11 by Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2081T>A (p.Leu694Ter) rs2467946472
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500

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