ClinVar Miner

List of variants reported as uncertain significance for combined immunodeficiency due to DOCK8 deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_203447.4(DOCK8):c.4241+19T>G	rs2056303175	0.00001
NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln)	rs2053549124
NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn)	rs2055912945

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