List of variants in gene ITGB3 reported as pathogenic for bleeding disorder, platelet-type, 24

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter)	rs75427428	0.00004
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)	rs121918452	0.00002
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	rs958609406	0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	rs121918444	0.00001
NM_000212.3(ITGB3):c.1036-2A>G	rs1567765995
NM_000212.3(ITGB3):c.2134+1G>C	rs398122373

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