ClinVar Miner

List of variants reported as pathogenic for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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ClinVar version:
Total variants: 35
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HGVS dbSNP
NC_000017.11:g.(?_3636418)_(3656815_?)del
NC_000017.11:g.(?_3636418)_(3658185_?)del
NC_000017.11:g.(?_3636418)_(3658195_?)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
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+2T>C
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.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205
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)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004937.3(CTNS):c.61+5G>A
NM_004937.3(CTNS):c.61_61+2del
NM_004937.3(CTNS):c.62-1G>T
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601
NM_004937.3(CTNS):c.681+1G>A
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs) rs1555564051
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)
NM_004937.3(CTNS):c.790_791del (p.Gln264fs)
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.971-12G>A rs375952052

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