ClinVar Miner

List of variants studied for MHC class I deficiency by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.1733C>T (p.Ala578Val) rs78328107 0.00068
NM_000593.6(TAP1):c.302C>T (p.Ala101Val) rs375437555 0.00006
NM_000593.6(TAP1):c.887G>A (p.Ser296Asn)
NM_001290043.2(TAP2):c.220C>G (p.Pro74Ala) rs1054846360
NM_003190.5(TAPBP):c.1138T>C (p.Tyr380His) rs1768797475
NM_003190.5(TAPBP):c.342C>G (p.Asn114Lys) rs778522290

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