ClinVar Miner

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

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ClinVar version:
Total variants: 100
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HGVS dbSNP
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.11:g.(?_14903611)_(14955432_?)dup
NC_000010.11:g.(?_14939790)_(14954030_?)dup
NM_001033855.3(DCLRE1C):c.1024A>G (p.Ile342Val)
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala)
NM_001033855.3(DCLRE1C):c.1048A>G (p.Lys350Glu)
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys)
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp) rs748164114
NM_001033855.3(DCLRE1C):c.1106A>G (p.Tyr369Cys)
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val)
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg) rs921819288
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) rs769948633
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys)
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln)
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala) rs1588894157
NM_001033855.3(DCLRE1C):c.1445C>A (p.Ala482Asp)
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys)
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)
NM_001033855.3(DCLRE1C):c.1532C>A (p.Thr511Lys)
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser)
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val)
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln) rs1588892650
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser)
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln)
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met) rs751811224
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile)
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys) rs1588890065
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr)
NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs)
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) rs1051813612
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378
NM_001033855.3(DCLRE1C):c.1996C>G (p.His666Asp)
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter) rs1409082603
NM_001033855.3(DCLRE1C):c.2010_2011AT[1] (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.201_203GTT[2] (p.Leu70del)
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser) rs754829084
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr) rs140602902
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372
NM_001033855.3(DCLRE1C):c.2053del (p.Arg685fs)
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr)
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp)
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser)
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001033855.3(DCLRE1C):c.361A>T (p.Met121Leu)
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His)
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp) rs1468919857
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp) rs766699328
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu)
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala)
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.678+5G>T rs750695358
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala) rs756395955
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045
NM_001033855.3(DCLRE1C):c.767G>A (p.Cys256Tyr)
NM_001033855.3(DCLRE1C):c.779A>G (p.Lys260Arg)
NM_001033855.3(DCLRE1C):c.780+6T>G
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317
NM_001033855.3(DCLRE1C):c.803G>A (p.Ser268Asn)
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys) rs1589019320
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) rs748516669
NM_001033855.3(DCLRE1C):c.925G>C (p.Glu309Gln)
NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val)
NM_001033855.3(DCLRE1C):c.967A>T (p.Ser323Cys)
NM_001033855.3(DCLRE1C):c.971A>G (p.Glu324Gly)
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658

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