ClinVar Miner

List of variants reported as likely pathogenic for Omenn syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158

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