ClinVar Miner

List of variants reported as likely pathogenic by ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen

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Total variants: 53
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HGVS dbSNP
NM_000212.2(ITGB3):c.187C>T (p.Arg63Cys) rs199866795
NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450
NM_000212.2(ITGB3):c.362-1G>A rs1567764299
NM_000212.2(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.2(ITGB3):c.761A>G (p.Gln254Arg) rs1598690979
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly)
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=)
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp)
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg)
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr)
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser)
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg)
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly)
NM_000212.3(ITGB3):c.1913+5G>T
NM_000212.3(ITGB3):c.353T>A (p.Leu118His)
NM_000212.3(ITGB3):c.448A>G (p.Met150Val)
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser)
NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys)
NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys)
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter)
NM_000212.3(ITGB3):c.940-2A>G
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr)
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala)
NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro)
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436
NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys)
NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val)
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp)
NM_000419.5(ITGA2B):c.1753-1G>A
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.2267+1G>T
NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu)
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro)
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs)
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe)
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs)
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs)
NM_000419.5(ITGA2B):c.2975del (p.Glu992fs)
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs)
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206
NM_000419.5(ITGA2B):c.460_462del (p.Glu154del)
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg)
NM_000419.5(ITGA2B):c.527C>A (p.Pro176His)
NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu)
NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val)
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser)
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu)
NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp)
NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val)

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