ClinVar Miner

List of variants reported as pathogenic for combined immunodeficiency due to partial RAG1 deficiency by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro) rs104894288
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978

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