ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000448.2(RAG1):c.424C>T (p.Arg142Ter) rs773929270
NM_000448.2(RAG1):c.549G>A (p.Met183Ile) rs750394886
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_006904.6(PRKDC):c.4138G>A (p.Ala1380Thr) rs56209904
NM_006904.6(PRKDC):c.5572-4G>A rs367584015
NM_006904.6(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703

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