ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 5 by Institute of Human Genetics, University of Goettingen

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)	rs1564197227
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)	rs1589311413

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