ClinVar Miner

List of variants reported as benign for functional neutrophil defect by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.4(ITGB2):c.-111T>C rs2070947 0.21817
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000211.5(ITGB2):c.*122G>A rs684 0.19694
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713 0.01984
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667 0.01960
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_000211.5(ITGB2):c.59-15G>A rs74539155 0.01426
NM_000211.5(ITGB2):c.1657+9G>A rs114479227 0.01380
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_000211.5(ITGB2):c.810G>A (p.Ala270=) rs61737077 0.00555
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460 0.00418
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_000211.5(ITGB2):c.2058C>G (p.Leu686=) rs117884186 0.00119
NM_000211.5(ITGB2):c.*121C>T rs375146934 0.00026
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.*171G>C rs6570
NM_000211.5(ITGB2):c.*370G>T rs117989670
NM_018389.5(SLC35C1):c.*1636G>A rs79173599

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