"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KDSR"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380547	NM_002035.4(KDSR):c.950G>A (p.Arg317His)	KDSR (R317H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380908	NM_002035.4(KDSR):c.413T>G (p.Phe138Cys)	KDSR (F138C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2371724	NM_002035.4(KDSR):c.167G>T (p.Gly56Val)	KDSR (G56V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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