ClinVar Miner

List of variants studied for MHC class I deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln) rs373810087 0.00018
NM_003190.5(TAPBP):c.591G>A (p.Pro197=) rs200497341 0.00006
NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile) rs765178638 0.00005
NM_000593.6(TAP1):c.1203C>G (p.Asn401Lys) rs756823000 0.00003
NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp) rs536291251 0.00002
NM_001290043.2(TAP2):c.1144-5delinsAC
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_001290043.2(TAP2):c.217_218del (p.Thr73fs) rs1321880935

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