List of variants in gene ITGB3 reported as likely 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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)	rs79208797	0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)	rs121918446	0.00001
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter)	rs754250394
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter)	rs2143133343
NM_000212.3(ITGB3):c.448A>G (p.Met150Val)	rs767548512

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