"Baylor Genetics"[submitter] AND "CLCN5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560969	NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter)	CLCN5 (W115* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GPathogenic
Select item 2441960	NM_001127898.4(CLCN5):c.667del (p.Ala224fs)	CLCN5 (A154fs +2 more)	Deletion (frameshift variant)	Dent disease type 1	GPathogenic
Select item 1029478	NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)	CLCN5 (S244* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1 +1 more	GConflicting classifications of pathogenicity

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