ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.32854082C>A rs2071480 0.41945
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_000593.6(TAP1):c.-34G>A rs2071536 0.08168
NM_000593.6(TAP1):c.1372G>T (p.Val458Leu) rs41550019 0.05998
NM_000593.6(TAP1):c.1943G>A (p.Arg648Gln) rs1057149 0.05992
NM_000593.6(TAP1):c.423T>C (p.Val141=) rs55702652 0.02994
NM_000593.6(TAP1):c.762C>T (p.Gly254=) rs41549617 0.02937
NM_000593.6(TAP1):c.1983G>A (p.Pro661=) rs41551515 0.02846
NM_000593.6(TAP1):c.1109C>T (p.Ala370Val) rs2127679 0.02831
NM_000593.6(TAP1):c.1552G>A (p.Val518Ile) rs41561219 0.02830
NM_000593.6(TAP1):c.598+17G>T rs55967815 0.02750
NM_000593.6(TAP1):c.857C>T (p.Ser286Phe) rs2228111 0.00961
NM_000593.6(TAP1):c.49G>C (p.Gly17Arg) rs57640466 0.00819
NM_000593.6(TAP1):c.730G>T (p.Val244Leu) rs36229525 0.00785
NM_000593.6(TAP1):c.-20G>A rs113585939 0.00670
NM_000593.6(TAP1):c.438G>A (p.Ala146=) rs78410191 0.00190
NM_000593.6(TAP1):c.1461C>T (p.Arg487=) rs146075993 0.00102
NM_000593.6(TAP1):c.465C>T (p.His155=) rs56016563 0.00086
NM_000593.6(TAP1):c.588C>G (p.Leu196=) rs2228109 0.00065
NM_000593.6(TAP1):c.437C>T (p.Ala146Val) rs144830209 0.00010
NM_000593.6(TAP1):c.1255G>T (p.Gly419Cys) rs2228110

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