ClinVar Miner

List of variants in gene combination DOCK8, LOC130001437 reported as uncertain significance for combined immunodeficiency due to DOCK8 deficiency

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val) rs886063779 0.00003
NM_203447.4(DOCK8):c.4G>A (p.Ala2Thr) rs995474571 0.00002
NC_000009.11:g.(?_214957)_(215049_?)dup
NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu) rs566738926

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