ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000593.5(TAP1):c.1037C>T (p.Ser346Phe) rs2228111
NM_000593.5(TAP1):c.1289C>T (p.Ala430Val) rs2127679
NM_000593.5(TAP1):c.1435G>T (p.Gly479Cys) rs2228110
NM_000593.5(TAP1):c.1552G>T (p.Val518Leu) rs41550019
NM_000593.5(TAP1):c.161G>A (p.Arg54Gln) rs113585939
NM_000593.5(TAP1):c.1732G>A (p.Val578Ile) rs41561219
NM_000593.5(TAP1):c.2123G>A (p.Arg708Gln) rs1057149
NM_000593.5(TAP1):c.2163G>A (p.Pro721=) rs41551515
NM_000593.5(TAP1):c.229G>C (p.Gly77Arg) rs57640466
NM_000593.5(TAP1):c.603T>C (p.Val201=) rs55702652
NM_000593.5(TAP1):c.618G>A (p.Ala206=) rs78410191
NM_000593.5(TAP1):c.645C>T (p.His215=) rs56016563
NM_000593.5(TAP1):c.768C>G (p.Leu256=) rs2228109
NM_000593.5(TAP1):c.910G>T (p.Val304Leu) rs36229525
NM_000593.5(TAP1):c.942C>T (p.Gly314=) rs41549617

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