ClinVar Miner

List of variants reported as pathogenic for Leukocyte adhesion deficiency 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000211.5(ITGB2):c.2070del (p.Asp690fs) rs1466186480 0.00002
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) rs137852615 0.00001
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NC_000021.8:g.(?_46308588)_(46310157_?)del
NC_000021.8:g.(?_46309171)_(46310157_?)del
NM_000211.5(ITGB2):c.1057del (p.Val353fs) rs2146511363
NM_000211.5(ITGB2):c.1168_1180del (p.Val390fs)
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000211.5(ITGB2):c.1275del (p.Phe426fs)
NM_000211.5(ITGB2):c.1367dup (p.Ser457fs) rs2146504324
NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)
NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter) rs774228764
NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs) rs1230903176
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter) rs748574145
NM_000211.5(ITGB2):c.1759del (p.Arg587fs) rs2146498117
NM_000211.5(ITGB2):c.185del (p.Cys62fs)
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.2036del (p.Gln679fs) rs1227331406
NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs) rs2083735130
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.239del (p.Asp80fs)
NM_000211.5(ITGB2):c.295del (p.Ser99fs)
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
NM_000211.5(ITGB2):c.59-10C>A
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.742-14C>A rs183204825
NM_000211.5(ITGB2):c.753del (p.Trp252fs) rs1349812924
NM_000211.5(ITGB2):c.786del (p.Thr263fs) rs1601302490
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
NM_000211.5(ITGB2):c.954del (p.Ile319fs)

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