ClinVar Miner

List of variants studied for MHC class I deficiency by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NM_001290043.2(TAP2):c.494-42G>C rs2071465 0.39868
NM_001290043.2(TAP2):c.608+7G>A rs2071466 0.26274
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_003190.5(TAPBP):c.-25T>A rs2239840 0.22922
NM_003190.5(TAPBP):c.-24C>A rs2239841 0.22909
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys) rs4148876 0.05694

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