ClinVar Miner

List of variants in gene TAP2 reported as pathogenic for MHC class I deficiency

Included ClinVar conditions (1):
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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.1345C>T (p.Arg449Ter) rs765335850 0.00003
NM_001290043.2(TAP2):c.1101G>A (p.Trp367Ter) rs781370484 0.00001
NM_001290043.2(TAP2):c.117del (p.Trp39fs)
NM_001290043.2(TAP2):c.1260del (p.Ser421fs) rs1769133149
NM_001290043.2(TAP2):c.1606C>T (p.Gln536Ter)
NM_001290043.2(TAP2):c.1636-1G>A
NM_001290043.2(TAP2):c.1837C>T (p.Gln613Ter)
NM_001290043.2(TAP2):c.1867C>T (p.Arg623Ter)
NM_001290043.2(TAP2):c.224del (p.Leu75fs)
NM_001290043.2(TAP2):c.373del (p.Gln125fs) rs2127367497
NM_001290043.2(TAP2):c.63G>A (p.Trp21Ter)
NM_001290043.2(TAP2):c.815del (p.Leu272fs)
NM_001290043.2(TAP2):c.817C>T (p.Arg273Ter) rs61736923
NM_001290043.2(TAP2):c.824del (p.Leu275fs) rs2127363263
NM_001290043.2(TAP2):c.958del (p.Glu320fs) rs1562331529
NM_001290043.2(TAP2):c.979del (p.Arg327fs)

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