ClinVar Miner

List of variants in gene combination LOC107648851, TAP2 reported as uncertain significance for MHC class I deficiency

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.701T>A (p.Leu234Gln) rs138708621 0.00031
NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys) rs145890763 0.00023
NM_001290043.2(TAP2):c.515A>T (p.Tyr172Phe) rs777069495 0.00006
NM_001290043.2(TAP2):c.677G>A (p.Arg226Gln) rs371802164 0.00004
NM_001290043.2(TAP2):c.529A>T (p.Ile177Phe) rs761121102 0.00003
NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp) rs536291251 0.00002
NM_001290043.2(TAP2):c.513C>G (p.His171Gln) rs1270127514 0.00001
NM_001290043.2(TAP2):c.656C>T (p.Ser219Phe) rs1554235670 0.00001
NM_001290043.2(TAP2):c.661A>G (p.Ile221Val) rs764363057 0.00001
NM_001290043.2(TAP2):c.665A>G (p.Asn222Ser) rs1252311955 0.00001
NM_001290043.2(TAP2):c.494G>A (p.Gly165Asp) rs1769504477
NM_001290043.2(TAP2):c.524G>A (p.Arg175His) rs1769502410
NM_001290043.2(TAP2):c.526G>A (p.Val176Met)
NM_001290043.2(TAP2):c.561T>G (p.His187Gln) rs2127366964
NM_001290043.2(TAP2):c.580T>G (p.Phe194Val) rs1769497083
NM_001290043.2(TAP2):c.606C>T (p.Gly202=) rs2127366882
NM_001290043.2(TAP2):c.609-7C>G
NM_001290043.2(TAP2):c.620C>T (p.Ala207Val)
NM_001290043.2(TAP2):c.629G>A (p.Arg210Gln)
NM_001290043.2(TAP2):c.659G>A (p.Arg220Gln)
NM_001290043.2(TAP2):c.670C>T (p.Arg224Trp)
NM_001290043.2(TAP2):c.704G>A (p.Arg235His) rs148976382
NM_001290043.2(TAP2):c.715G>A (p.Gly239Ser) rs779665536
NM_001290043.2(TAP2):c.727G>A (p.Glu243Lys) rs1473544417
NM_001290043.2(TAP2):c.728A>G (p.Glu243Gly)
NM_001290043.2(TAP2):c.730A>G (p.Thr244Ala)
NM_001290043.2(TAP2):c.736A>G (p.Thr246Ala)

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