ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 16; Glanzmann thrombasthenia

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001

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