ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 5 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438

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