ClinVar Miner

List of variants reported as pathogenic for Severe combined immunodeficiency due to DCLRE1C deficiency by Invitae

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Total variants: 20
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HGVS dbSNP
NC_000010.11:g.(?_14935443)_(14936613_?)del
NC_000010.11:g.(?_14939800)_(14945199_?)del
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000010.11:g.(?_14945095)_(14945199_?)del
NC_000010.11:g.(?_14945095)_(14954442_?)del
NC_000010.11:g.14935443_14954030del
NM_001033855.3(DCLRE1C):c.109+1G>T
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs) rs1589070600
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) rs1340132582
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343

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