ClinVar Miner

List of variants in gene CTNS reported as pathogenic for cystinosis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) rs113875421 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 0.00004
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 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.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.668del (p.Cys223fs) rs770145986 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
NC_000017.10:g.(?_3539712)_(3543571_?)del
NC_000017.10:g.(?_3539712)_(3552235_?)del
NC_000017.10:g.(?_3539761)_3561464del
NC_000017.10:g.(?_3543501)_(3543581_?)del
NC_000017.10:g.(?_3543501)_(3552245_?)del
NC_000017.10:g.(?_3550728)_(3550826_?)del
NC_000017.10:g.(?_3558272)_(3560109_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NC_000017.11:g.3636418G>T rs887657778
NC_000017.11:g.3636418_3636419insT
NC_000017.11:g.3654998del
NC_000017.11:g.3659858del rs2142981161
NC_000017.11:g.3660238_3660245del
NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del
NM_004937.2:c.661insT
NM_004937.3(CTNS):c.1000del (p.Thr334fs) rs2142982656
NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del)
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) rs748094459
NM_004937.3(CTNS):c.120del (p.Asn41fs) rs879255616
NM_004937.3(CTNS):c.140+1G>A
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+1del rs2150904759
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.141-24T>C
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs) rs2150906974
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.1A>T (p.Met1Leu) rs2075650925
NM_004937.3(CTNS):c.204del (p.Ile69fs)
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter) rs2150919035
NM_004937.3(CTNS):c.27del (p.Phe9fs) rs2150888913
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.314_317del (p.His105fs)
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.329G>T (p.Gly110Val) rs121908129
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.405dup (p.Val136fs)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter) rs2076101974
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) rs745365232
NM_004937.3(CTNS):c.539_551del (p.Leu180fs) rs2150922730
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) rs1567695026
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter) rs2150889009
NM_004937.3(CTNS):c.61_61+2del rs2075652654
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.62-1G>T rs1597619719
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.681+8del rs2150923282
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.682-2A>C
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.696dup (p.Val233fs) rs113994209
NM_004937.3(CTNS):c.699_700del (p.Ser234fs) rs766981777
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter) rs2150925108
NM_004937.3(CTNS):c.741del (p.Phe247fs)
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter) rs2076198741
NM_004937.3(CTNS):c.790_791del (p.Gln264fs) rs2076198775
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.82_83del (p.Val28fs) rs2150904623
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.841dup (p.Tyr281fs) rs1411094034
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.853-3C>G rs113994210
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.91dup (p.Val31fs) rs879255613
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_004937.3(CTNS):c.971-12G>A rs375952052

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