ClinVar Miner

List of variants reported as pathogenic for MHC class I deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter) rs143800384 0.00005
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter) rs967210854 0.00004
NM_001290043.2(TAP2):c.1345C>T (p.Arg449Ter) rs765335850 0.00003
NM_000593.6(TAP1):c.1005del (p.Pro336fs) rs770072323 0.00001
NM_000593.6(TAP1):c.1699A>T (p.Lys567Ter) rs2483142817 0.00001
NM_000593.6(TAP1):c.1866_1879del (p.His622fs) rs1354641607 0.00001
NM_000593.6(TAP1):c.335T>A (p.Leu112Ter) rs2483185391 0.00001
NM_000593.6(TAP1):c.934C>T (p.Arg312Ter) rs1336232266 0.00001
NM_000593.6(TAP1):c.971C>G (p.Ser324Ter) rs1470217821 0.00001
NM_001290043.2(TAP2):c.1101G>A (p.Trp367Ter) rs781370484 0.00001
NM_001290043.2(TAP2):c.1636-1G>A rs1768957914 0.00001
NM_001290043.2(TAP2):c.1867C>T (p.Arg623Ter) rs771932254 0.00001
NM_001290043.2(TAP2):c.224del (p.Leu75fs) rs1455526809 0.00001
NM_001290043.2(TAP2):c.63G>A (p.Trp21Ter) rs766586765 0.00001
NC_000006.11:g.(?_32796632)_(32808844_?)del
NM_000593.5(TAP1):c.89dup (p.Gly32Argfs) rs2483190241
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000593.6(TAP1):c.1047C>A (p.Tyr349Ter)
NM_000593.6(TAP1):c.1217_1218del (p.Val406fs) rs2483162654
NM_000593.6(TAP1):c.1679dup (p.Gln561fs)
NM_000593.6(TAP1):c.1738C>T (p.Gln580Ter) rs1331472742
NM_000593.6(TAP1):c.1789G>T (p.Glu597Ter) rs2483139752
NM_000593.6(TAP1):c.1813C>T (p.Gln605Ter) rs2483139594
NM_000593.6(TAP1):c.1845_1858dup (p.Gly620delinsValGlnTer)
NM_000593.6(TAP1):c.1945C>T (p.Gln649Ter)
NM_000593.6(TAP1):c.195G>A (p.Trp65Ter)
NM_000593.6(TAP1):c.676C>T (p.Arg226Ter) rs2483177125
NM_001290043.2(TAP2):c.117del (p.Trp39fs) rs748019972
NM_001290043.2(TAP2):c.1260del (p.Ser421fs) rs1769133149
NM_001290043.2(TAP2):c.1606C>T (p.Gln536Ter) rs2483018539
NM_001290043.2(TAP2):c.178G>T (p.Gly60Ter)
NM_001290043.2(TAP2):c.1837C>T (p.Gln613Ter) rs763365550
NM_001290043.2(TAP2):c.373del (p.Gln125fs) rs2127367497
NM_001290043.2(TAP2):c.658C>T (p.Arg220Ter) rs142794316
NM_001290043.2(TAP2):c.724C>T (p.Gln242Ter) rs2483045582
NM_001290043.2(TAP2):c.815del (p.Leu272fs) rs1769342165
NM_001290043.2(TAP2):c.824del (p.Leu275fs) rs2127363263
NM_001290043.2(TAP2):c.958del (p.Glu320fs) rs1562331529

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