ClinVar Miner

List of variants in gene TAPBP reported as uncertain significance for MHC class I deficiency

Included ClinVar conditions (2):
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Total variants: 47
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HGVS dbSNP
NC_000006.12:g.(?_33301740)_(33314061_?)dup
NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp) rs1022611517
NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro) rs1006835992
NM_003190.4(TAPBP):c.1069G>A (p.Asp357Asn) rs376210117
NM_003190.4(TAPBP):c.1180C>T (p.Arg394Cys) rs545499119
NM_003190.4(TAPBP):c.1181G>A (p.Arg394His) rs763198738
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 rs770150271
NM_003190.4(TAPBP):c.161C>T (p.Pro54Leu) rs139155669
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) rs145952108
NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala) rs561629511
NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser) rs561629511
NM_003190.4(TAPBP):c.590C>T (p.Pro197Leu) rs149606847
NM_003190.4(TAPBP):c.591G>A (p.Pro197=) rs200497341
NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser) rs776580678
NM_003190.4(TAPBP):c.845del (p.Val282fs) rs765712832
NM_003190.4(TAPBP):c.872C>A (p.Pro291His) rs1462974353
NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu) rs767486136
NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp) rs200280998
NM_003190.5(TAPBP):c.1103C>T (p.Pro368Leu)
NM_003190.5(TAPBP):c.1135C>G (p.Arg379Gly)
NM_003190.5(TAPBP):c.1175C>T (p.Ser392Leu)
NM_003190.5(TAPBP):c.1186G>A (p.Ala396Thr)
NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn)
NM_003190.5(TAPBP):c.1214T>A (p.Leu405His)
NM_003190.5(TAPBP):c.166_169delinsG (p.Pro56_Arg57delinsGly)
NM_003190.5(TAPBP):c.176A>C (p.Asp59Ala)
NM_003190.5(TAPBP):c.189G>C (p.Glu63Asp)
NM_003190.5(TAPBP):c.245A>G (p.Tyr82Cys)
NM_003190.5(TAPBP):c.269A>G (p.His90Arg)
NM_003190.5(TAPBP):c.289G>C (p.Val97Leu)
NM_003190.5(TAPBP):c.312del (p.Lys104fs) rs771157811
NM_003190.5(TAPBP):c.373A>G (p.Met125Val)
NM_003190.5(TAPBP):c.574G>A (p.Ala192Thr)
NM_003190.5(TAPBP):c.634G>A (p.Gly212Ser)
NM_003190.5(TAPBP):c.667G>C (p.Gly223Arg)
NM_003190.5(TAPBP):c.726TGA[2] (p.Asp244del)
NM_003190.5(TAPBP):c.796G>A (p.Glu266Lys)
NM_003190.5(TAPBP):c.839G>A (p.Gly280Glu)
NM_003190.5(TAPBP):c.867_868del (p.Tyr289_Lys290delinsTer)
NM_003190.5(TAPBP):c.907C>T (p.Arg303Trp)
NM_003190.5(TAPBP):c.928C>T (p.Pro310Ser)
NM_003190.5(TAPBP):c.98C>G (p.Ala33Gly)
NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp)

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