ClinVar Miner

List of variants studied for MHC class I deficiency by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.1783C>G (p.Leu595Val) rs145691938 0.00047
NM_001290043.2(TAP2):c.701T>A (p.Leu234Gln) rs138708621 0.00031
NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter) rs143800384 0.00005
NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp) rs772349873 0.00005
NM_003190.5(TAPBP):c.1345T>G (p.Ter449Gly) rs1292795497 0.00001
NM_000593.6(TAP1):c.2149G>T (p.Gly717Ter) rs937604777

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