ClinVar Miner

List of variants reported as likely pathogenic for Nephropathic cystinosis

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Total variants: 35
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HGVS dbSNP
NM_001031681.2(CTNS):c.-19-1G>A rs1555558034
NM_001031681.2(CTNS):c.1085+17T>C rs1057517330
NM_001031681.2(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_001031681.2(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_001031681.2(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_001031681.2(CTNS):c.225+1G>A rs1555561049
NM_001031681.2(CTNS):c.225+5_225+6delinsCC rs786204541
NM_001031681.2(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_001031681.2(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_001031681.2(CTNS):c.320_323del (p.Asn107fs) rs1555562830
NM_001031681.2(CTNS):c.323del (p.Gln108fs) rs879255615
NM_001031681.2(CTNS):c.329+2T>C rs955833453
NM_001031681.2(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_001031681.2(CTNS):c.416C>T (p.Ser139Phe) rs267606754
NM_001031681.2(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_001031681.2(CTNS):c.561+1del rs786204667
NM_001031681.2(CTNS):c.562-2_562-1del rs1555563521
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001031681.2(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_001031681.2(CTNS):c.61+1G>A rs1555558116
NM_001031681.2(CTNS):c.611_613ACG[1] (p.Asp205del) rs760256854
NM_001031681.2(CTNS):c.62-2A>G rs1555560637
NM_001031681.2(CTNS):c.681+1del rs1555563658
NM_001031681.2(CTNS):c.681+2T>C rs1057516723
NM_001031681.2(CTNS):c.682-1G>A rs1057516771
NM_001031681.2(CTNS):c.694_695CG[3] (p.Val233fs) rs1555563982
NM_001031681.2(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_001031681.2(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_001031681.2(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_001031681.2(CTNS):c.853-1G>A rs1555564588
NM_001031681.2(CTNS):c.853-2A>G rs1475322504
NM_001031681.2(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_001031681.2(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_001031681.2(CTNS):c.971-1dup rs1555564823
NM_004937.3(CTNS):c.559_561+24del rs113994211

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