ClinVar Miner

List of variants reported as benign for functional neutrophil defect by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_002872.5(RAC2):c.477T>C (p.Ala159=) rs1064498 0.22300
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_002872.5(RAC2):c.81C>G (p.Ala27=) rs2239774 0.15604
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09305
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_000211.5(ITGB2):c.147+16A>G rs34580582 0.07739
NM_002872.5(RAC2):c.107+20T>C rs6000622 0.06966
NM_000211.5(ITGB2):c.148-16G>T rs2072703 0.06628
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.05878
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.05738
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_002872.5(RAC2):c.252C>T (p.Leu84=) rs2230919 0.02042
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_000211.5(ITGB2):c.59-15G>A rs74539155 0.01426
NM_000211.5(ITGB2):c.1657+9G>A rs114479227 0.01380
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_001805.4(CEBPE):c.747C>T (p.Arg249=) rs55722931 0.01359
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00871
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_001805.4(CEBPE):c.234C>T (p.Pro78=) rs114913626 0.00837
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
NM_000211.5(ITGB2):c.741+19C>T rs73374602 0.00635
NM_001805.4(CEBPE):c.511-15T>G rs147453535 0.00630
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) rs141903485 0.00571
NM_000211.5(ITGB2):c.810G>A (p.Ala270=) rs61737077 0.00555
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_000211.5(ITGB2):c.148-16del rs202011691 0.00529
NM_000211.5(ITGB2):c.148-18C>T rs201512257 0.00526
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_002872.5(RAC2):c.449-18G>T rs73889256 0.00403
NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=) rs113735964 0.00399
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00245
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130 0.00236
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225 0.00235
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_002872.5(RAC2):c.35+16G>A rs200969255 0.00209
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_000211.5(ITGB2):c.1497G>A (p.Lys499=) rs61747615 0.00193
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_000211.5(ITGB2):c.1658-19G>A rs200196087 0.00148
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00143
NM_000211.5(ITGB2):c.2058C>G (p.Leu686=) rs117884186 0.00119
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00116
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638 0.00077
NM_002872.5(RAC2):c.501C>T (p.Thr167=) rs79799102 0.00067
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_001805.4(CEBPE):c.558G>A (p.Ala186=) rs372854243 0.00034
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341 0.00024
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.5(ITGB2):c.123C>T (p.Pro41=) rs375907746 0.00019
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_000211.5(ITGB2):c.504C>T (p.Phe168=) rs143576179 0.00014
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00010
NM_000211.5(ITGB2):c.1932C>T (p.Ser644=) rs776351244 0.00010
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_000211.5(ITGB2):c.1062T>A (p.His354Gln) rs235330 0.00009
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_000211.5(ITGB2):c.741+8C>T rs111780009 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00006
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00002
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.13C>T (p.Arg5Cys) rs61737078
NM_000211.5(ITGB2):c.59-16C>T
NM_000211.5(ITGB2):c.741+16del rs375487126
NM_000211.5(ITGB2):c.742-16del
NM_000211.5(ITGB2):c.742-21dup rs760281688
NM_001805.4(CEBPE):c.225T>C (p.Pro75=)
NM_001805.4(CEBPE):c.34C>T (p.Arg12Trp)
NM_001805.4(CEBPE):c.511-24G>A rs45496295
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.758-16T>A
NM_002872.5(RAC2):c.226-21dup rs11374583
NM_002872.5(RAC2):c.448+11C>T rs530853255
NM_031471.6(FERMT3):c.1312-11del
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.515-7A>T
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376

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