ClinVar Miner

List of variants in gene CTNS reported as pathogenic for Cystinosis

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
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.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.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 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
NC_000017.10:g.(?_3539761)_3561464del
NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del
NM_004937.2:c.661insT
NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del)
NM_004937.3(CTNS):c.120del (p.Asn41fs) rs879255616
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.741del (p.Phe247fs)
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004937.3(CTNS):c.91dup (p.Val31fs) rs879255613
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.971-12G>A rs375952052

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