ClinVar Miner

List of variants in gene TAP1 reported as likely pathogenic for MHC class I deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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

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