ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_003190.5(TAPBP):c.175G>T (p.Asp59Tyr) rs45583737 0.00441
NM_003190.5(TAPBP):c.1234G>A (p.Asp412Asn) rs138516982 0.00200
NM_003190.5(TAPBP):c.623G>A (p.Arg208His) rs138273100 0.00135
NM_003190.5(TAPBP):c.998G>A (p.Arg333Gln) rs11549919 0.00079
NM_003190.5(TAPBP):c.161C>G (p.Pro54Arg) rs139155669 0.00073
NM_003190.5(TAPBP):c.563C>T (p.Thr188Ile) rs142455342 0.00047
NM_003190.5(TAPBP):c.753C>T (p.Thr251=) rs147684698 0.00033
NM_003190.5(TAPBP):c.768C>T (p.Phe256=) rs145473025 0.00020
NM_003190.5(TAPBP):c.1029C>T (p.Ala343=) rs375869909 0.00016
NM_003190.5(TAPBP):c.876C>G (p.Pro292=) rs555796568 0.00016
NM_003190.5(TAPBP):c.1228C>T (p.Leu410Phe) rs200685500 0.00011
NM_003190.5(TAPBP):c.1185C>T (p.Ser395=) rs369975343 0.00009
NM_003190.5(TAPBP):c.1026G>A (p.Lys342=) rs201074090 0.00006
NM_003190.5(TAPBP):c.591G>A (p.Pro197=) rs200497341 0.00006
NM_003190.5(TAPBP):c.705C>T (p.Ala235=) rs146422093 0.00006
NM_003190.5(TAPBP):c.172C>T (p.Pro58Ser) rs376978188 0.00005
NM_003190.5(TAPBP):c.213C>T (p.Pro71=) rs777682903 0.00005
NM_003190.5(TAPBP):c.576C>T (p.Ala192=) rs950808132 0.00005
NM_003190.5(TAPBP):c.1104G>A (p.Pro368=) rs780116309 0.00004
NM_003190.5(TAPBP):c.1128T>C (p.His376=) rs377366674 0.00004
NM_003190.5(TAPBP):c.38-18C>T rs762601324 0.00004
NM_003190.5(TAPBP):c.37+10C>G rs770222534 0.00003
NM_003190.5(TAPBP):c.631C>T (p.Leu211=) rs150471656 0.00003
NM_003190.5(TAPBP):c.933G>A (p.Pro311=) rs778870301 0.00003
NM_003190.5(TAPBP):c.1143C>T (p.Ala381=) rs755761081 0.00002
NM_003190.5(TAPBP):c.1203G>A (p.Glu401=) rs981203752 0.00002
NM_003190.5(TAPBP):c.1300+8T>C rs966303595 0.00002
NM_003190.5(TAPBP):c.1014C>T (p.Gly338=) rs749398191 0.00001
NM_003190.5(TAPBP):c.21C>T (p.Leu7=) rs768367936 0.00001
NM_003190.5(TAPBP):c.342C>T (p.Asn114=) rs778522290 0.00001
NM_003190.5(TAPBP):c.426G>A (p.Gln142=) rs148601579 0.00001
NM_003190.5(TAPBP):c.469+8G>C rs200904092 0.00001
NM_003190.5(TAPBP):c.57A>C (p.Ser19=) rs778294391 0.00001
NM_003190.5(TAPBP):c.585G>A (p.Leu195=) rs554976419 0.00001
NM_003190.5(TAPBP):c.869-16C>T rs1479415145 0.00001
NM_003190.5(TAPBP):c.912C>T (p.Ala304=) rs1468182307 0.00001
NM_003190.5(TAPBP):c.948T>C (p.Leu316=) rs763682947 0.00001
NM_003190.5(TAPBP):c.1050G>A (p.Ser350=)
NM_003190.5(TAPBP):c.1052C>T (p.Ala351Val)
NM_003190.5(TAPBP):c.1068C>T (p.Ser356=)
NM_003190.5(TAPBP):c.108G>A (p.Lys36=)
NM_003190.5(TAPBP):c.1164C>T (p.Ser388=)
NM_003190.5(TAPBP):c.1170T>C (p.Pro390=)
NM_003190.5(TAPBP):c.1176G>A (p.Ser392=)
NM_003190.5(TAPBP):c.1210+11G>A
NM_003190.5(TAPBP):c.1210+8C>T
NM_003190.5(TAPBP):c.1227C>T (p.Ser409=)
NM_003190.5(TAPBP):c.1248T>C (p.Leu416=) rs2150959869
NM_003190.5(TAPBP):c.1300+11G>C
NM_003190.5(TAPBP):c.1300+17C>A
NM_003190.5(TAPBP):c.1309C>T (p.Leu437=) rs1382973887
NM_003190.5(TAPBP):c.1314C>T (p.Ser438=) rs1768759818
NM_003190.5(TAPBP):c.1336-4C>A rs371464306
NM_003190.5(TAPBP):c.135G>A (p.Leu45=)
NM_003190.5(TAPBP):c.136C>T (p.Leu46=)
NM_003190.5(TAPBP):c.141G>A (p.Leu47=)
NM_003190.5(TAPBP):c.162G>T (p.Pro54=)
NM_003190.5(TAPBP):c.165G>A (p.Pro55=)
NM_003190.5(TAPBP):c.168C>T (p.Pro56=)
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.5(TAPBP):c.177C>T (p.Asp59=) rs1562701808
NM_003190.5(TAPBP):c.198C>T (p.Leu66=)
NM_003190.5(TAPBP):c.24C>T (p.Leu8=)
NM_003190.5(TAPBP):c.282C>T (p.Ser94=)
NM_003190.5(TAPBP):c.300C>T (p.Pro100=) rs2150974759
NM_003190.5(TAPBP):c.348G>T (p.Pro116=) rs779747861
NM_003190.5(TAPBP):c.37+14G>A
NM_003190.5(TAPBP):c.37+16G>T
NM_003190.5(TAPBP):c.372G>C (p.Leu124=)
NM_003190.5(TAPBP):c.38-16C>T
NM_003190.5(TAPBP):c.39C>T (p.Gly13=)
NM_003190.5(TAPBP):c.414C>T (p.Leu138=)
NM_003190.5(TAPBP):c.459C>T (p.Thr153=) rs2150974303
NM_003190.5(TAPBP):c.469+18G>A
NM_003190.5(TAPBP):c.475C>T (p.Leu159=)
NM_003190.5(TAPBP):c.495C>T (p.Thr165=)
NM_003190.5(TAPBP):c.534G>A (p.Leu178=)
NM_003190.5(TAPBP):c.558C>A (p.Pro186=)
NM_003190.5(TAPBP):c.567C>A (p.Ser189=) rs369452003
NM_003190.5(TAPBP):c.567C>T (p.Ser189=) rs369452003
NM_003190.5(TAPBP):c.657T>A (p.Ala219=)
NM_003190.5(TAPBP):c.657T>G (p.Ala219=)
NM_003190.5(TAPBP):c.747A>T (p.Pro249=) rs2150961711
NM_003190.5(TAPBP):c.772C>T (p.Leu258=)
NM_003190.5(TAPBP):c.804C>T (p.Thr268=)
NM_003190.5(TAPBP):c.850C>T (p.Leu284=)
NM_003190.5(TAPBP):c.868+11G>A
NM_003190.5(TAPBP):c.869-12C>T
NM_003190.5(TAPBP):c.869-15G>A
NM_003190.5(TAPBP):c.946C>T (p.Leu316Phe)
NM_003190.5(TAPBP):c.969T>C (p.Ser323=)
NM_003190.5(TAPBP):c.975C>G (p.Gly325=)

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