ClinVar Miner

List of variants studied for MHC class I deficiency by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.599-1G>A rs1770853358 0.00001
NM_000593.6(TAP1):c.2104dup (p.His702fs)
NM_001290043.2(TAP2):c.373del (p.Gln125fs) rs2127367497
NM_001290043.2(TAP2):c.817C>T (p.Arg273Ter) rs61736923
NM_001290043.2(TAP2):c.979del (p.Arg327fs)
NM_003190.5(TAPBP):c.469+3326_1336-732del

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