ClinVar Miner

List of variants in gene TAP2 reported as benign for MHC class I deficiency

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.*30= rs241449 0.74246
NM_001290043.2(TAP2):c.1993= (p.Thr665=) rs241447 0.74244
NM_001290043.2(TAP2):c.2059= (p.Ter687=) rs241448 0.73216
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala) rs241447 0.25756
NM_001290043.2(TAP2):c.*30G>T rs241449 0.25754
NM_001290043.2(TAP2):c.1812A>G (p.Gly604=) rs241441 0.25585
NM_001290043.2(TAP2):c.1932+9C>T rs241442 0.25438
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_001290043.2(TAP2):c.1693G>A (p.Ala565Thr) rs2228396 0.09496
NM_001290043.2(TAP2):c.1308C>T (p.Asn436=) rs1042116 0.08275
NM_001290043.2(TAP2):c.1800A>C (p.Val600=) rs2229527 0.06729
NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys) rs4148876 0.05694
NM_001290043.2(TAP2):c.1932+10G>A rs41316548 0.03199
NM_001290043.2(TAP2):c.1161G>A (p.Val387=) rs2856992 0.02108
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_001290043.2(TAP2):c.938G>A (p.Arg313His) rs140654840 0.01474
NM_001290043.2(TAP2):c.1144-5T>C rs148353836 0.01133
NM_001290043.2(TAP2):c.1398G>A (p.Gly466=) rs137982419 0.01133
NM_001290043.2(TAP2):c.1399G>A (p.Val467Ile) rs150253319 0.01133
NM_001290043.2(TAP2):c.1826C>T (p.Ala609Val) rs74770812 0.01035
NM_001290043.2(TAP2):c.1374G>A (p.Thr458=) rs149495208 0.00902
NM_001290043.2(TAP2):c.44T>C (p.Val15Ala) rs55827768 0.00817
NM_001290043.2(TAP2):c.4C>T (p.Arg2Trp) rs61736918 0.00447
NM_001290043.2(TAP2):c.1635+18A>G rs185280611 0.00348
NM_001290043.2(TAP2):c.1273-15A>G rs115303673 0.00274
NM_001290043.2(TAP2):c.1729A>G (p.Met577Val) rs2228391 0.00271
NM_001290043.2(TAP2):c.1755A>G (p.Ala585=) rs79098150 0.00247
NM_001290043.2(TAP2):c.162G>A (p.Lys54=) rs56064400 0.00182
NM_001290043.2(TAP2):c.1878G>A (p.Arg626=) rs141926520 0.00149
NM_001290043.2(TAP2):c.1920G>A (p.Gln640=) rs145894663 0.00052
NM_001290043.2(TAP2):c.336C>T (p.Ser112=) rs55765602 0.00027
NM_001290043.2(TAP2):c.918G>A (p.Ala306=) rs556799828 0.00002
NM_001290043.2(TAP2):c.1144-16_1144-13del rs200922606
NM_001290043.2(TAP2):c.1144-6T>A rs9461814
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_001290043.2(TAP2):c.1398_1399delinsAA (p.Val467Ile) rs369909014
NM_001290043.2(TAP2):c.1933-6del rs550778027
NM_001290043.2(TAP2):c.222C>A (p.Pro74=) rs2229526

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