ClinVar Miner

List of variants reported for Platelet-type bleeding disorder 16; Glanzmann thrombasthenia by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001

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