ClinVar Miner

List of variants reported as likely benign for T-B+ severe combined immunodeficiency by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000206.2(IL2RG):c.231C>T (p.Ser77=) rs1556330951
NM_000206.2(IL2RG):c.855-8C>T rs372985214
NM_000215.3(JAK3):c.105C>T (p.Pro35=) rs199988158
NM_000215.3(JAK3):c.1269T>C (p.Pro423=) rs1555744931
NM_000215.3(JAK3):c.1581G>A (p.Leu527=) rs3213408
NM_000215.3(JAK3):c.1644C>T (p.Ala548=) rs764363104
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) rs35785705
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000215.3(JAK3):c.2262G>A (p.Leu754=) rs375857709
NM_000215.3(JAK3):c.3213C>T (p.His1071=) rs757910571
NM_000215.3(JAK3):c.354C>T (p.Phe118=) rs751336782
NM_000215.3(JAK3):c.630G>A (p.Arg210=) rs201101011
NM_000732.4(CD3D):c.274+8C>T rs1209300043
NM_001193333.2(CORO1A):c.222G>A (p.Ala74=) rs747607776
NM_001193333.2(CORO1A):c.630C>T (p.Val210=) rs139989282
NM_001193333.2(CORO1A):c.792G>A (p.Leu264=) rs139024575
NM_001193333.2(CORO1A):c.969C>A (p.Pro323=) rs1555490997
NM_198053.2(CD247):c.15G>A (p.Ala5=) rs746701386
NM_198053.2(CD247):c.294A>G (p.Gly98=) rs1453205554
NM_198053.2(CD247):c.39G>A (p.Gln13=) rs760945719
NM_198053.2(CD247):c.411G>C (p.Gly137=) rs148298128
NM_198053.2(CD247):c.462C>T (p.Asp154=) rs181656780

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