ClinVar Miner

List of variants studied for Leukocyte adhesion deficiency 1 by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.148-1089A>G rs760462 0.87259
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00807

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