ClinVar Miner

List of variants reported as uncertain significance for combined immunodeficiency due to DOCK8 deficiency by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Combined immunodeficiency due to DOCK8 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_203447.4(DOCK8):c.3484C>T (p.Leu1162Phe)	rs757455782	0.00004
NM_203447.4(DOCK8):c.4267G>C (p.Ala1423Pro)	rs764066199	0.00002

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