C4225242[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252601	NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)	KCNN4 (R352H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2 +1 more	GPathogenic
Select item 372186	NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)	KCNN4 (V282E)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GLikely pathogenic
Select item 372185	NM_002250.3(KCNN4):c.844G>A (p.Val282Met)	KCNN4 (V282M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GLikely pathogenic

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