List of variants in gene TAP1 reported as pathogenic for MHC class I deficiency

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

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter)	rs143800384	0.00004
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter)	rs967210854	0.00004
NM_000593.6(TAP1):c.1005del (p.Pro336fs)	rs770072323	0.00001
NM_000593.6(TAP1):c.599-1G>A	rs1770853358	0.00001
NM_000593.6(TAP1):c.971C>G (p.Ser324Ter)	rs1470217821	0.00001
NM_000593.5(TAP1):c.89dup (p.Gly32Argfs)
NM_000593.6(TAP1):c.-46_-45delinsAT	rs1770963822
NM_000593.6(TAP1):c.1217_1218del (p.Val406fs)
NM_000593.6(TAP1):c.1699A>T (p.Lys567Ter)
NM_000593.6(TAP1):c.1738C>T (p.Gln580Ter)
NM_000593.6(TAP1):c.1789G>T (p.Glu597Ter)
NM_000593.6(TAP1):c.1813C>T (p.Gln605Ter)
NM_000593.6(TAP1):c.1866_1879del (p.His622fs)	rs1354641607
NM_000593.6(TAP1):c.335T>A (p.Leu112Ter)
NM_000593.6(TAP1):c.676C>T (p.Arg226Ter)
NM_000593.6(TAP1):c.884del (p.Leu295fs)
NM_000593.6(TAP1):c.934C>T (p.Arg312Ter)

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