List of variants in gene CTNS reported as likely benign for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.327C>T (p.Thr109=)	rs150554216	0.00141
NM_004937.3(CTNS):c.562-20T>C	rs764063960	0.00042
NM_004937.3(CTNS):c.684C>T (p.Arg228=)	rs762346133	0.00009
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)	rs200313254	0.00006
NM_004937.3(CTNS):c.225+19C>T	rs550960394	0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	rs187396540	0.00005
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)	rs149007536	0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)	rs771450572	0.00004
NM_004937.3(CTNS):c.562-16C>T	rs776712980	0.00004
NM_004937.3(CTNS):c.461+8C>T	rs368822078	0.00003
NM_004937.3(CTNS):c.831G>T (p.Thr277=)	rs533147998	0.00003
NM_004937.3(CTNS):c.61+20G>A	rs760019018	0.00002
NM_004937.3(CTNS):c.729C>T (p.Leu243=)	rs762142619	0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=)	rs150773117	0.00001
NM_004937.3(CTNS):c.855C>G (p.Ala285=)	rs1425996808	0.00001
NM_004937.3(CTNS):c.141-8C>T	rs768912772
NM_004937.3(CTNS):c.552C>T (p.Pro184=)	rs2150922782

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