List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 5 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)	rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	rs796053335

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