ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by Fulgent Genetics,Fulgent Genetics

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_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001625.4(AK2):c.247A>G (p.Ile83Val)

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