"Genome-Nilou Lab"[submitter] AND "SLC12A5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1274178	NM_020708.5(SLC12A5):c.280-45C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34 +1 more	GBenign
Select item 1164899	NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=)	SLC12A5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1170350	NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34 +1 more	GBenign

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