"Genome-Nilou Lab"[submitter] AND "CTNS-AS1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558924	NM_004937.3(CTNS):c.329+22C>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 1184686	NM_004937.3(CTNS):c.461+49A>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 683626	NM_004937.3(CTNS):c.461+52G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 672024	NM_004937.3(CTNS):c.461+54G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 257154	NM_004937.3(CTNS):c.504G>A (p.Thr168=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign

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