ClinVar Miner

List of variants reported as likely pathogenic for MHC class I deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.1272+1G>A rs1222208628 0.00001
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000593.6(TAP1):c.1740+2T>C
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp) rs765527607
NM_001290043.2(TAP2):c.1635+1G>C
NM_001290043.2(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_001290043.2(TAP2):c.494-2A>G rs2127367115
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)

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