ClinVar Miner

List of variants in gene PSMB8, TAP1 studied for MHC class I deficiency

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Total variants: 37
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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.2076C>T (p.Tyr692=) rs56337036 0.00120
NM_000593.6(TAP1):c.2041-20G>A rs368776572 0.00010
NM_000593.6(TAP1):c.2081G>A (p.Arg694His) rs566329319 0.00004
NM_000593.6(TAP1):c.2140T>C (p.Phe714Leu) rs1272906792 0.00004
NM_000593.6(TAP1):c.2154C>T (p.Gly718=) rs748368417 0.00004
NM_000593.6(TAP1):c.2071C>T (p.Arg691Trp) rs747716612 0.00002
NM_000593.6(TAP1):c.2155G>A (p.Ala719Thr) rs771945026 0.00002
NM_000593.6(TAP1):c.2041-15G>A rs538476075 0.00001
NM_000593.6(TAP1):c.2077T>A (p.Ser693Thr) rs192960052 0.00001
NM_000593.6(TAP1):c.2080C>T (p.Arg694Cys) rs563899405 0.00001
NM_000593.6(TAP1):c.2121G>A (p.Glu707=) rs764242641 0.00001
NM_000593.6(TAP1):c.2131C>G (p.His711Asp) rs752812686 0.00001
NM_000593.6(TAP1):c.2187C>T (p.Leu729=) rs1770319548 0.00001
NM_000593.6(TAP1):c.2224G>C (p.Ala742Pro) rs746330769 0.00001
NM_000593.6(TAP1):c.2041-10C>G rs2127384261
NM_000593.6(TAP1):c.2041-13T>C rs528862984
NM_000593.6(TAP1):c.2041-15G>C
NM_000593.6(TAP1):c.2041-16C>T
NM_000593.6(TAP1):c.2047C>A (p.Gln683Lys) rs1770340996
NM_000593.6(TAP1):c.2047C>T (p.Gln683Ter) rs1770340996
NM_000593.6(TAP1):c.2062A>G (p.Ser688Gly) rs2127384196
NM_000593.6(TAP1):c.2066C>T (p.Pro689Leu)
NM_000593.6(TAP1):c.2072G>A (p.Arg691Gln) rs200753447
NM_000593.6(TAP1):c.2072G>C (p.Arg691Pro) rs200753447
NM_000593.6(TAP1):c.2094C>T (p.Leu698=) rs1582621927
NM_000593.6(TAP1):c.2095A>G (p.Ile699Val)
NM_000593.6(TAP1):c.2104dup (p.His702fs)
NM_000593.6(TAP1):c.2139C>A (p.Leu713=) rs1055956289
NM_000593.6(TAP1):c.2144T>G (p.Leu715Arg) rs1770326102
NM_000593.6(TAP1):c.2145G>T (p.Leu715=)
NM_000593.6(TAP1):c.2149G>T (p.Gly717Ter)
NM_000593.6(TAP1):c.2167G>C (p.Gly723Arg) rs768348425
NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp) rs768348425
NM_000593.6(TAP1):c.2213C>T (p.Ala738Val)
NM_000593.6(TAP1):c.2219T>C (p.Val740Ala) rs1554242514

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