ClinVar Miner

List of variants in gene CTNS reported as likely pathogenic for Nephropathic cystinosis

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
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.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.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.-19-1G>A rs1555558034
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln) rs1057517330
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
NM_004937.3(CTNS):c.140+1G>C
NM_004937.3(CTNS):c.140+1_140+20del
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_004937.3(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-1G>A
NM_004937.3(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.320_323del (p.Asn107fs) rs1555562830
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_004937.3(CTNS):c.462-1G>A
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
NM_004937.3(CTNS):c.546G>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.562-2A>G
NM_004937.3(CTNS):c.562-2_562-1del rs1555563521
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
NM_004937.3(CTNS):c.61+1G>A rs1555558116
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.62-2A>G rs1555560637
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.681+1del rs1555563658
NM_004937.3(CTNS):c.681+2T>C rs1057516723
NM_004937.3(CTNS):c.682-1G>A rs1057516771
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
NM_004937.3(CTNS):c.971-1G>C rs2142982540
NM_004937.3(CTNS):c.971-1dup rs1555564823
NM_004937.3(CTNS):c.971-2dup
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)

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