List of variants in gene CTNS studied for Juvenile nephropathic cystinosis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)	rs555311279	0.00002
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_004937.3(CTNS):c.462-10C>T	rs765481486	0.00001
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	rs786204501
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	rs121908128

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