ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894

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