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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.2154C>T (p.Gly718=)	rs748368417	0.00004
NM_000593.6(TAP1):c.2121G>A (p.Glu707=)	rs764242641	0.00001
NM_000593.6(TAP1):c.2187C>T (p.Leu729=)	rs1770319548	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.2072G>A (p.Arg691Gln)	rs200753447
NM_000593.6(TAP1):c.2094C>T (p.Leu698=)	rs1582621927
NM_000593.6(TAP1):c.2139C>A (p.Leu713=)	rs1055956289
NM_000593.6(TAP1):c.2145G>T (p.Leu715=)

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