ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_003190.5(TAPBP):c.-25T>A rs2239840 0.22922
NM_003190.5(TAPBP):c.-24C>A rs2239841 0.22909
NM_003190.5(TAPBP):c.972G>A (p.Gly324=) rs61739590 0.03495
NM_003190.5(TAPBP):c.1239C>T (p.Ser413=) rs34132052 0.03488
NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) rs144706539 0.01237
NM_003190.5(TAPBP):c.1301-14A>G rs73741554 0.00881
NM_003190.5(TAPBP):c.1210+20C>T rs41266733 0.00718
NM_003190.5(TAPBP):c.174G>T (p.Pro58=) rs45501592 0.00377
NM_003190.5(TAPBP):c.573C>T (p.Ala191=) rs34349100 0.00226
NM_003190.5(TAPBP):c.103G>A (p.Gly35Arg) rs117394742 0.00080
NM_003190.5(TAPBP):c.1284G>A (p.Lys428=) rs148137345 0.00067
NM_003190.5(TAPBP):c.37+13C>G rs201502591 0.00065
NM_003190.5(TAPBP):c.681G>A (p.Gln227=) rs143453259 0.00036
NM_003190.5(TAPBP):c.333C>G (p.Pro111=) rs561857093 0.00001
NM_003190.5(TAPBP):c.1301-5dup

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