List of variants reported as uncertain significance for juvenile nephropathic cystinosis by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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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
NC_000017.10:g.(?_3533479)_(3571820_?)dup
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.683G>T (p.Arg228Leu)	rs754201055
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)

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