ClinVar Miner

List of variants in gene combination EFCAB13-DT, ITGB3 reported as uncertain significance for Glanzmann thrombasthenia 1

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser)	rs766423016	0.00001
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs)	rs2143150604

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