ClinVar Miner

List of variants studied for MHC class I deficiency by Mendelics

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Total variants: 3
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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.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala) rs241447 0.25756

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