ClinVar Miner

List of variants in gene ITGB3 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.2015-29_2134+24del rs1598700249
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624

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