ClinVar Miner

List of variants reported as pathogenic for Glanzmann thrombasthenia 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)	rs121918452	0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro)	rs137852911	0.00002
NM_000419.5(ITGA2B):c.1752+2T>C	rs769156315	0.00001

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