ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) rs200358667 0.00005
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
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.1302G>C (p.Gln434His) rs1598694591
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) rs1386425657
NM_000212.3(ITGB3):c.1447T>C (p.Cys483Arg) rs1598694712
NM_000212.3(ITGB3):c.2015-29_2134+24del rs1598700249
NM_000212.3(ITGB3):c.2128G>A (p.Glu710Lys) rs1471737872
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624

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