List of variants in gene CTNS reported as uncertain significance by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.-8C>T	rs372701935	0.00001
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)	rs745806090
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del)	rs1555564879
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs)	rs779451531
NM_004937.3(CTNS):c.225+5_225+8del	rs1555561048
NM_004937.3(CTNS):c.425_427del (p.Phe142del)	rs1178364162
NM_004937.3(CTNS):c.462-27_462-3del	rs1555563374
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)	rs1555563446
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)	rs1555563619
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)	rs1555563962
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	rs777367316
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)	rs1263951539
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)	rs1064795587

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