ClinVar Miner

List of variants reported as pathogenic for MHC class I deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter) rs143800384 0.00004
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.971C>G (p.Ser324Ter) rs1470217821 0.00001
NM_001290043.2(TAP2):c.1101G>A (p.Trp367Ter) rs781370484 0.00001
NM_000593.5(TAP1):c.89dup (p.Gly32Argfs)
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000593.6(TAP1):c.1217_1218del (p.Val406fs)
NM_000593.6(TAP1):c.1699A>T (p.Lys567Ter)
NM_000593.6(TAP1):c.1738C>T (p.Gln580Ter)
NM_000593.6(TAP1):c.1789G>T (p.Glu597Ter)
NM_000593.6(TAP1):c.1813C>T (p.Gln605Ter)
NM_000593.6(TAP1):c.1866_1879del (p.His622fs) rs1354641607
NM_000593.6(TAP1):c.335T>A (p.Leu112Ter)
NM_000593.6(TAP1):c.676C>T (p.Arg226Ter)
NM_000593.6(TAP1):c.934C>T (p.Arg312Ter)
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.658C>T (p.Arg220Ter)
NM_001290043.2(TAP2):c.724C>T (p.Gln242Ter)
NM_001290043.2(TAP2):c.815del (p.Leu272fs)
NM_001290043.2(TAP2):c.824del (p.Leu275fs) rs2127363263
NM_001290043.2(TAP2):c.958del (p.Glu320fs) rs1562331529

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