ClinVar Miner

List of variants reported as pathogenic for T-B- severe combined immunodeficiency by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NC_000010.10:g.(?_14977442)_(14978612_?)del
NC_000010.10:g.(?_14981799)_(14987198_?)del
NC_000010.10:g.(?_14987084)_(14987208_?)del
NC_000010.10:g.(?_14987084)_(14996029_?)del
NC_000010.10:g.(?_14987094)_(14996441_?)del
NC_000020.10:g.(?_43280196)_(43280268_?)del
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000448.2(RAG1):c.1180C>T (p.Arg394Trp)
NM_000448.2(RAG1):c.1187G>A (p.Arg396His) rs104894291
NM_000448.2(RAG1):c.1210C>T (p.Arg404Trp)
NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) rs199474685
NM_000448.2(RAG1):c.1421G>A (p.Arg474His) rs199474686
NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) rs193922461
NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) rs104894285
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000448.2(RAG1):c.256_257del (p.Lys86fs) rs772962160
NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu) rs539590514
NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) rs193922464
NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) rs121918571
NM_000448.2(RAG1):c.994C>T (p.Arg332Ter)
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021
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.449dup (p.His151fs)
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)

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