ClinVar Miner

List of variants in gene TAPBP studied for MHC class I deficiency

Included ClinVar conditions (2):
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Total variants: 31
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HGVS dbSNP
NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp)
NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro)
NM_003190.4(TAPBP):c.1069G>A (p.Asp357Asn)
NM_003190.4(TAPBP):c.1180C>T (p.Arg394Cys)
NM_003190.4(TAPBP):c.1181G>A (p.Arg394His) rs763198738
NM_003190.4(TAPBP):c.1234G>A (p.Asp412Asn) rs138516982
NM_003190.4(TAPBP):c.1239C>T (p.Ser413=) rs34132052
NM_003190.4(TAPBP):c.1252C>T (p.Leu418=) rs144706539
NM_003190.4(TAPBP):c.1258G>A (p.Ala420Thr) rs1382572674
NM_003190.4(TAPBP):c.129_470-3609del
NM_003190.4(TAPBP):c.1300+3_1300+6del
NM_003190.4(TAPBP):c.161C>T (p.Pro54Leu) rs139155669
NM_003190.4(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.4(TAPBP):c.312del (p.Lys104fs)
NM_003190.4(TAPBP):c.369G>A (p.Trp123Ter) rs1554279286
NM_003190.4(TAPBP):c.464C>G (p.Ala155Gly) rs747106102
NM_003190.4(TAPBP):c.556C>T (p.Pro186Ser)
NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala)
NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser) rs561629511
NM_003190.4(TAPBP):c.563C>T (p.Thr188Ile) rs142455342
NM_003190.4(TAPBP):c.573C>T (p.Ala191=) rs34349100
NM_003190.4(TAPBP):c.590C>T (p.Pro197Leu)
NM_003190.4(TAPBP):c.591G>A (p.Pro197=) rs200497341
NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)
NM_003190.4(TAPBP):c.753C>T (p.Thr251=) rs147684698
NM_003190.4(TAPBP):c.845del (p.Val282fs) rs765712832
NM_003190.4(TAPBP):c.872C>A (p.Pro291His)
NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu)
NM_003190.4(TAPBP):c.972G>A (p.Gly324=) rs61739590
NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp)
TAPBP, 7.4-KB DEL

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