ClinVar Miner

List of variants reported as likely pathogenic for Leukocyte adhesion deficiency 3 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)	rs121918297	0.00001
NM_000211.5(ITGB2):c.120del (p.Gly42fs)	rs2084110970
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)	rs2146531776

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