List of variants in gene CTNS reported as uncertain significance for Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases

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: 92

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	rs140326392	0.00072
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)	rs1314998853	0.00015
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)	rs149689304	0.00014
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)	rs138823792	0.00011
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu)	rs548772179	0.00009
NM_004937.3(CTNS):c.830C>T (p.Thr277Met)	rs757009591	0.00006
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)	rs201153770	0.00005
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)	rs113875421	0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)	rs764372178	0.00004
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)	rs555311279	0.00002
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu)	rs762561354	0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)	rs745744798	0.00001
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)	rs771990787	0.00001
NM_004937.3(CTNS):c.367A>G (p.Ile123Val)	rs776104111	0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu)	rs1009882965	0.00001
NM_004937.3(CTNS):c.442A>T (p.Met148Leu)	rs779895948	0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser)	rs752632797	0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)	rs768188337	0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)	rs764538705	0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)	rs752869556	0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu)	rs759921102	0.00001
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1042G>A (p.Val348Ile)
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)	rs748094459
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)	rs2076255711
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys)	rs1454743016
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.225+3A>G	rs2075909295
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile)	rs1295370570
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del)	rs2150919478
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn)	rs2076099606
NM_004937.3(CTNS):c.365C>T (p.Ala122Val)	rs2076099841
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp)	rs1413852868
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)	rs1555563619
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)	rs200336280
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)	rs1463026342
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)	rs1567713916
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)	rs2076199463
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)	rs2076200184
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)	rs1263951539
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.