ClinVar Miner

List of variants in gene combination PSMB8, TAP1 reported as benign for MHC class I deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.2182C>A (p.Gln728Lys) rs74897484 0.00175
NM_000593.6(TAP1):c.2041-14A>C rs140017767 0.00145
NM_000593.6(TAP1):c.2041-15G>A rs538476075 0.00001

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