ClinVar Miner

List of variants in gene ITGB3 reported as pathogenic for Glanzmann thrombasthenia 1

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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.428T>G (p.Leu143Trp)	rs121918452	0.00002
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter)	rs887221055

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