ClinVar Miner

List of variants reported as uncertain significance for Glanzmann thrombasthenia 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser) rs766423016 0.00001
NM_000419.5(ITGA2B):c.2417G>A (p.Ser806Asn) rs1189791675 0.00001
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs) rs2143150604
NM_000419.5(ITGA2B):c.1210+609C>T
NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del) rs2143459210
NM_000419.5(ITGA2B):c.1624G>A (p.Asp542Asn)
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.205G>A (p.Gly69Ser)
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2422G>A (p.Gly808Arg)
NM_000419.5(ITGA2B):c.2761T>C (p.Cys921Arg)
NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.409-3C>G rs2143489585
NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.700A>G (p.Ile234Val)
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426

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