ClinVar Miner

List of variants in gene DOCK8 reported as not provided for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu) rs200152962 0.00012
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) rs369449324 0.00007
NM_203447.4(DOCK8):c.2971-5C>T rs373718659 0.00004
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn) rs374938180 0.00001

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