ClinVar Miner

List of variants reported as pathogenic for combined immunodeficiency by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612

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