List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 39

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)	rs121434396	0.00001
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln)	rs886037851
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)
NM_003705.5(SLC25A12):c.1447-2_1447-1del
NM_003705.5(SLC25A12):c.693del (p.Val232fs)

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