List of variants in gene ITGB3 reported as likely pathogenic for autosomal dominant macrothrombocytopenia

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	rs121918444	0.00001
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)	rs1057518837
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)	rs1057518838

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