ClinVar Miner

List of variants reported as pathogenic for Leukocyte adhesion deficiency 1

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Total variants: 57
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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.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) rs387906411 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_000211.4(ITGB2):c.[576dupC];[706G>A]
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) rs137852613
NM_000211.5(ITGB2):c.1057del (p.Val353fs) rs2146511363
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
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.1657+1G>T rs2146499719
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.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
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.305_306del (p.Lys102fs) rs2146538658
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.329-36_452del
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) rs137852617
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) rs137852611
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) rs137852612
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) rs137852610
NM_000211.5(ITGB2):c.59-10C>A
NM_000211.5(ITGB2):c.616C>T (p.His206Tyr)
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.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
NM_000211.5(ITGB2):c.897+1G>T rs201752283
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
NM_000211.5(ITGB2):c.954del (p.Ile319fs)
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]

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