ClinVar Miner

List of variants in gene NCF2 reported as likely benign for phagocytic cell dysfunction

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00239
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00174
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_000433.4(NCF2):c.1552G>C (p.Asp518His) rs143901397 0.00144
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00074
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00034
NM_000433.4(NCF2):c.714-13C>T rs377217293 0.00024
NM_000433.4(NCF2):c.511C>T (p.Leu171=) rs145354685 0.00021
NM_000433.4(NCF2):c.1178+9C>T rs368136871 0.00019
NM_000433.4(NCF2):c.1446T>C (p.Asp482=) rs146762552 0.00016
NM_000433.4(NCF2):c.924+20T>C rs183005487 0.00016
NM_000433.4(NCF2):c.*97A>C rs367946786 0.00015
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) rs142803799 0.00014
NM_000433.4(NCF2):c.156C>T (p.Asn52=) rs752384353 0.00012
NM_000433.4(NCF2):c.1291-16C>T rs370204795 0.00011
NM_000433.4(NCF2):c.174+20T>G rs762293872 0.00011
NM_000433.4(NCF2):c.1469-5_1469-2dup rs775939432 0.00010
NM_000433.4(NCF2):c.925-15C>T rs542054366 0.00006
NM_000433.4(NCF2):c.945C>T (p.Ser315=) rs200655126 0.00006
NM_000433.4(NCF2):c.378C>T (p.Asn126=) rs748619343 0.00005
NM_000433.4(NCF2):c.502-16G>A rs374166487 0.00005
NM_000433.4(NCF2):c.855+20del rs373262281 0.00005
NM_000433.4(NCF2):c.1542C>T (p.Cys514=) rs769779675 0.00004
NM_000433.4(NCF2):c.243C>T (p.Tyr81=) rs143178891 0.00004
NM_000433.4(NCF2):c.636C>T (p.Asp212=) rs774027102 0.00004
NM_000433.4(NCF2):c.849C>T (p.Asn283=) rs767437169 0.00004
NM_000433.4(NCF2):c.1001-6A>C rs773499891 0.00003
NM_000433.4(NCF2):c.1410T>C (p.Ala470=) rs750384875 0.00003
NM_000433.4(NCF2):c.453G>A (p.Lys151=) rs751432737 0.00003
NM_000433.4(NCF2):c.501+19C>G rs199846623 0.00003
NM_000433.4(NCF2):c.501+7G>A rs368417422 0.00003
NM_000433.4(NCF2):c.528G>A (p.Val176=) rs758239702 0.00003
NM_000433.4(NCF2):c.837G>A (p.Thr279=) rs942486247 0.00003
NM_000433.4(NCF2):c.925-19C>T rs374248950 0.00003
NM_000433.4(NCF2):c.1001-17C>T rs768778355 0.00002
NM_000433.4(NCF2):c.1179-7C>T rs568883428 0.00002
NM_000433.4(NCF2):c.1515T>C (p.Ile505=) rs757201201 0.00002
NM_000433.4(NCF2):c.175-9T>C rs746971202 0.00002
NM_000433.4(NCF2):c.196C>A (p.Arg66=) rs750782115 0.00002
NM_000433.4(NCF2):c.51G>A (p.Ala17=) rs761136334 0.00002
NM_000433.4(NCF2):c.610-8G>C rs754369694 0.00002
NM_000433.4(NCF2):c.669+20C>T rs779290545 0.00002
NM_000433.4(NCF2):c.670-9G>A rs746618335 0.00002
NM_000433.4(NCF2):c.855+17G>C rs1240329533 0.00002
NM_000433.4(NCF2):c.924+8G>A rs372137411 0.00002
NM_000433.4(NCF2):c.1000+13G>A rs1468113729 0.00001
NM_000433.4(NCF2):c.1027-6A>C rs371371441 0.00001
NM_000433.4(NCF2):c.1074C>T (p.Tyr358=) rs546373985 0.00001
NM_000433.4(NCF2):c.1083G>A (p.Thr361=) rs756157300 0.00001
NM_000433.4(NCF2):c.1128G>C (p.Arg376=) rs1034586485 0.00001
NM_000433.4(NCF2):c.1178+16G>A rs1325005888 0.00001
NM_000433.4(NCF2):c.1178+20C>T rs1672162365 0.00001
NM_000433.4(NCF2):c.1179-20T>G rs775961340 0.00001
NM_000433.4(NCF2):c.1212C>T (p.Pro404=) rs528239550 0.00001
NM_000433.4(NCF2):c.1224C>T (p.Asp408=) rs1280414227 0.00001
NM_000433.4(NCF2):c.1284C>T (p.Asn428=) rs745334269 0.00001
NM_000433.4(NCF2):c.1290+15G>A rs1451404544 0.00001
NM_000433.4(NCF2):c.1291-9T>C rs533465609 0.00001
NM_000433.4(NCF2):c.1401T>C (p.Ser467=) rs779867537 0.00001
NM_000433.4(NCF2):c.1413C>A (p.Thr471=) rs1304485344 0.00001
NM_000433.4(NCF2):c.1578C>T (p.Val526=) rs781431052 0.00001
NM_000433.4(NCF2):c.168A>G (p.Ala56=) rs1673574855 0.00001
NM_000433.4(NCF2):c.174+16T>C rs750867967 0.00001
NM_000433.4(NCF2):c.175-8C>T rs1209693136 0.00001
NM_000433.4(NCF2):c.201C>T (p.Asp67=) rs752044043 0.00001
NM_000433.4(NCF2):c.229C>A (p.Arg77=) rs752901695 0.00001
NM_000433.4(NCF2):c.258-16T>C rs1672862263 0.00001
NM_000433.4(NCF2):c.258-4G>A rs1317591790 0.00001
NM_000433.4(NCF2):c.258-8T>C rs972260470 0.00001
NM_000433.4(NCF2):c.273C>T (p.Ile91=) rs908864758 0.00001
NM_000433.4(NCF2):c.324C>T (p.Asp108=) rs775020616 0.00001
NM_000433.4(NCF2):c.330G>A (p.Lys110=) rs1672855755 0.00001
NM_000433.4(NCF2):c.348C>T (p.Phe116=) rs758956466 0.00001
NM_000433.4(NCF2):c.367-11T>A rs1470079889 0.00001
NM_000433.4(NCF2):c.426A>G (p.Glu142=) rs779087160 0.00001
NM_000433.4(NCF2):c.430T>C (p.Leu144=) rs1365509267 0.00001
NM_000433.4(NCF2):c.436T>C (p.Leu146=) rs750697066 0.00001
NM_000433.4(NCF2):c.444G>A (p.Thr148=) rs757064950 0.00001
NM_000433.4(NCF2):c.477C>T (p.Ile159=) rs369845453 0.00001
NM_000433.4(NCF2):c.486G>A (p.Ala162=) rs759074773 0.00001
NM_000433.4(NCF2):c.544C>T (p.Leu182=) rs1672648147 0.00001
NM_000433.4(NCF2):c.546G>A (p.Leu182=) rs778911214 0.00001
NM_000433.4(NCF2):c.60G>A (p.Lys20=) rs1673581987 0.00001
NM_000433.4(NCF2):c.610-7A>G rs1277564303 0.00001
NM_000433.4(NCF2):c.612C>T (p.Val204=) rs772322729 0.00001
NM_000433.4(NCF2):c.615G>A (p.Val205=) rs1318004213 0.00001
NM_000433.4(NCF2):c.663A>G (p.Gln221=) rs1288798553 0.00001
NM_000433.4(NCF2):c.714-17G>C rs1263160201 0.00001
NM_000433.4(NCF2):c.714-18T>C rs1191933880 0.00001
NM_000433.4(NCF2):c.714-8C>T rs1313573110 0.00001
NM_000433.4(NCF2):c.741G>C (p.Val247=) rs1401702903 0.00001
NM_000433.4(NCF2):c.742C>T (p.Leu248=) rs762714261 0.00001
NM_000433.4(NCF2):c.759T>C (p.Pro253=) rs776822572 0.00001
NM_000433.4(NCF2):c.795C>T (p.Asn265=) rs778431195 0.00001
NM_000433.4(NCF2):c.807C>T (p.Val269=) rs371493437 0.00001
NM_000433.4(NCF2):c.819C>T (p.Gly273=) rs1672346572 0.00001
NM_000433.4(NCF2):c.840C>G (p.Val280=) rs554005946 0.00001
NM_000433.4(NCF2):c.855+11G>A rs1359681025 0.00001
NM_000433.4(NCF2):c.855+14C>G rs1345915840 0.00001
NM_000433.4(NCF2):c.855+15A>G rs762465566 0.00001
NM_000433.4(NCF2):c.855+16G>C rs775224104 0.00001
NM_000433.4(NCF2):c.855+8G>A rs751011909 0.00001
NM_000433.4(NCF2):c.856-18T>C rs1044330801 0.00001
NM_000433.4(NCF2):c.856-6C>T rs949958283 0.00001
NM_000433.4(NCF2):c.897G>A (p.Leu299=) rs2527927905 0.00001
NM_000433.4(NCF2):c.924+17G>T rs768839146 0.00001
NM_000433.4(NCF2):c.924+18C>G rs757058752 0.00001
NM_000433.4(NCF2):c.927G>A (p.Glu309=) rs112336681 0.00001
NM_000433.4(NCF2):c.939G>C (p.Pro313=) rs556389548 0.00001
NM_000433.4(NCF2):c.948C>T (p.Asp316=) rs754545169 0.00001
NM_000433.4(NCF2):c.993G>A (p.Leu331=) rs776750922 0.00001
NM_000433.4(NCF2):c.9G>A (p.Leu3=) rs756851268 0.00001
NM_000433.4(NCF2):c.1000+14G>T rs2527921653
NM_000433.4(NCF2):c.1000+15A>G rs2527921632
NM_000433.4(NCF2):c.1000+8G>A rs1672268094
NM_000433.4(NCF2):c.1000+8G>T rs1672268094
NM_000433.4(NCF2):c.1001-12T>C
NM_000433.4(NCF2):c.1001-14dup rs1381794106
NM_000433.4(NCF2):c.1001-18C>T
NM_000433.4(NCF2):c.1001-4T>G rs1303682660
NM_000433.4(NCF2):c.1026+11T>C rs1371062891
NM_000433.4(NCF2):c.1026+12C>T rs750073492
NM_000433.4(NCF2):c.1026+13_1026+14dup
NM_000433.4(NCF2):c.1026+16C>T rs2527913931
NM_000433.4(NCF2):c.1026+18T>C rs2527913923
NM_000433.4(NCF2):c.1026+19A>G rs2527913914
NM_000433.4(NCF2):c.1027-12C>T
NM_000433.4(NCF2):c.1027-12del rs1672174813
NM_000433.4(NCF2):c.1027-13C>T rs2527911446
NM_000433.4(NCF2):c.1027-15T>C rs768694816
NM_000433.4(NCF2):c.1027-19T>G rs1672175206
NM_000433.4(NCF2):c.1027-4T>C rs2527911330
NM_000433.4(NCF2):c.1027-6A>G
NM_000433.4(NCF2):c.1027-6A>T rs371371441
NM_000433.4(NCF2):c.1029A>G (p.Glu343=) rs2527911303
NM_000433.4(NCF2):c.1035G>A (p.Lys345=) rs2527911261
NM_000433.4(NCF2):c.1038C>T (p.Leu346=) rs2527911245
NM_000433.4(NCF2):c.1053C>T (p.Pro351=) rs2102883171
NM_000433.4(NCF2):c.105C>T (p.Pro35=) rs2528039341
NM_000433.4(NCF2):c.1062C>T (p.Leu354=) rs2102883157
NM_000433.4(NCF2):c.1077G>A (p.Lys359=) rs2102883116
NM_000433.4(NCF2):c.1095G>A (p.Lys365=) rs2527910810
NM_000433.4(NCF2):c.1104C>T (p.Pro368=) rs541838904
NM_000433.4(NCF2):c.1107G>A (p.Gly369=) rs762936258
NM_000433.4(NCF2):c.1113C>T (p.Pro371=)
NM_000433.4(NCF2):c.1116C>T (p.Tyr372=) rs1423541750
NM_000433.4(NCF2):c.1137G>A (p.Val379=) rs1473126708
NM_000433.4(NCF2):c.1146A>G (p.Lys382=)
NM_000433.4(NCF2):c.1161G>A (p.Leu387=)
NM_000433.4(NCF2):c.1173G>A (p.Lys391=) rs1672164075
NM_000433.4(NCF2):c.1178+12G>T
NM_000433.4(NCF2):c.1178+13C>T rs767748338
NM_000433.4(NCF2):c.1178+17C>A rs2527910107
NM_000433.4(NCF2):c.1179-10C>A rs1558092345
NM_000433.4(NCF2):c.1179-12A>G rs2527909559
NM_000433.4(NCF2):c.1179-20T>C rs775961340
NM_000433.4(NCF2):c.1179-5C>A rs1436515944
NM_000433.4(NCF2):c.1182_1183delinsCT (p.Arg395Trp) rs2527909346
NM_000433.4(NCF2):c.1183C>A (p.Arg395=) rs13306575
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000433.4(NCF2):c.1191G>A (p.Arg397=) rs758694739
NM_000433.4(NCF2):c.1206G>A (p.Leu402=) rs1672152632
NM_000433.4(NCF2):c.1209G>A (p.Val403=) rs1672152222
NM_000433.4(NCF2):c.1245C>A (p.Gly415=) rs1672150097
NM_000433.4(NCF2):c.1254A>G (p.Lys418=) rs1244040870
NM_000433.4(NCF2):c.1257C>T (p.Asn419=) rs2102882201
NM_000433.4(NCF2):c.126C>T (p.Asn42=) rs1673576383
NM_000433.4(NCF2):c.1287A>G (p.Thr429=) rs2102882126
NM_000433.4(NCF2):c.1290+10A>G rs2102882099
NM_000433.4(NCF2):c.1290+12G>A rs2527908578
NM_000433.4(NCF2):c.1290+15G>C rs1451404544
NM_000433.4(NCF2):c.1290+16G>A rs2102882083
NM_000433.4(NCF2):c.1290+17G>C rs951905752
NM_000433.4(NCF2):c.1291-13T>C rs1305508752
NM_000433.4(NCF2):c.1291-15C>G rs886045654
NM_000433.4(NCF2):c.1291-6T>A rs2102876049
NM_000433.4(NCF2):c.1332A>G (p.Lys444=)
NM_000433.4(NCF2):c.1347C>T (p.Asn449=) rs2527894576
NM_000433.4(NCF2):c.135C>T (p.Cys45=) rs2528039142
NM_000433.4(NCF2):c.1377C>T (p.Gly459=) rs749065525
NM_000433.4(NCF2):c.1383A>G (p.Gln461=) rs886343232
NM_000433.4(NCF2):c.1404T>C (p.Tyr468=) rs1671977818
NM_000433.4(NCF2):c.1419A>G (p.Pro473=) rs766880844
NM_000433.4(NCF2):c.144T>C (p.Thr48=) rs2528039092
NM_000433.4(NCF2):c.1468+11C>T rs2527893525
NM_000433.4(NCF2):c.1468+12T>A rs1298509696
NM_000433.4(NCF2):c.1468+18A>G rs2527893458
NM_000433.4(NCF2):c.1468+19C>T rs2102875481
NM_000433.4(NCF2):c.1469-5A>G rs1572142441
NM_000433.4(NCF2):c.1469-5_1469-4dup rs1211056275
NM_000433.4(NCF2):c.1503G>T (p.Gly501=) rs544453576
NM_000433.4(NCF2):c.1509G>A (p.Val503=)
NM_000433.4(NCF2):c.1551A>G (p.Thr517=)
NM_000433.4(NCF2):c.1581G>A (p.Ter527=) rs768748386
NM_000433.4(NCF2):c.174+10G>A rs756489228
NM_000433.4(NCF2):c.174+11G>A rs2528038848
NM_000433.4(NCF2):c.174+11G>T rs2528038848
NM_000433.4(NCF2):c.174+14C>A rs965815572
NM_000433.4(NCF2):c.174+14C>G rs965815572
NM_000433.4(NCF2):c.174+14C>T rs965815572
NM_000433.4(NCF2):c.175-12T>C rs2528022476
NM_000433.4(NCF2):c.175-15C>T rs2102934643
NM_000433.4(NCF2):c.175-5C>G rs2102934600
NM_000433.4(NCF2):c.175-5C>T rs2102934600
NM_000433.4(NCF2):c.175-8C>A rs1209693136
NM_000433.4(NCF2):c.195C>T (p.Asn65=) rs2102934485
NM_000433.4(NCF2):c.222C>T (p.Tyr74=) rs2528021914
NM_000433.4(NCF2):c.255G>A (p.Glu85=) rs1457361434
NM_000433.4(NCF2):c.257+14T>C
NM_000433.4(NCF2):c.258-18T>A rs2527977593
NM_000433.4(NCF2):c.258-9G>C rs2102912657
NM_000433.4(NCF2):c.300G>A (p.Gln100=) rs773131016
NM_000433.4(NCF2):c.303T>A (p.Leu101=)
NM_000433.4(NCF2):c.312C>T (p.Asn104=) rs2102912417
NM_000433.4(NCF2):c.339G>C (p.Gly113=) rs1431485627
NM_000433.4(NCF2):c.360C>A (p.Ala120=) rs1260798923
NM_000433.4(NCF2):c.366+12A>G rs1157828019
NM_000433.4(NCF2):c.366+12dup rs2527976497
NM_000433.4(NCF2):c.366+15dup rs752527209
NM_000433.4(NCF2):c.366+17C>T rs2527976440
NM_000433.4(NCF2):c.367-11T>C rs1470079889
NM_000433.4(NCF2):c.367-17_367-16delinsAA rs2102906078
NM_000433.4(NCF2):c.367-4C>G rs1394520761
NM_000433.4(NCF2):c.387C>T (p.Phe129=)
NM_000433.4(NCF2):c.435A>G (p.Ala145=)
NM_000433.4(NCF2):c.441C>A (p.Ala147=) rs1340602863
NM_000433.4(NCF2):c.465A>G (p.Arg155=) rs2527964172
NM_000433.4(NCF2):c.492G>A (p.Glu164=)
NM_000433.4(NCF2):c.495T>C (p.Cys165=) rs1672708382
NM_000433.4(NCF2):c.501+12G>A
NM_000433.4(NCF2):c.501+18G>A rs951833967
NM_000433.4(NCF2):c.501+20A>C rs757545051
NM_000433.4(NCF2):c.501+20A>G rs757545051
NM_000433.4(NCF2):c.502-12T>C rs2527957673
NM_000433.4(NCF2):c.502-17C>A rs564418799
NM_000433.4(NCF2):c.502-17C>G rs564418799
NM_000433.4(NCF2):c.502-17C>T rs564418799
NM_000433.4(NCF2):c.502-18A>G rs2527957699
NM_000433.4(NCF2):c.502-7G>T rs960778600
NM_000433.4(NCF2):c.513A>C (p.Leu171=) rs771120104
NM_000433.4(NCF2):c.537G>A (p.Val179=) rs2527957383
NM_000433.4(NCF2):c.550C>A (p.Arg184=) rs766745748
NM_000433.4(NCF2):c.577C>T (p.Leu193=) rs2527957064
NM_000433.4(NCF2):c.57G>A (p.Lys19=) rs1673582136
NM_000433.4(NCF2):c.595C>T (p.Leu199=) rs763388019
NM_000433.4(NCF2):c.609+13G>A rs2527956753
NM_000433.4(NCF2):c.609+13G>T rs2527956753
NM_000433.4(NCF2):c.609+18G>A
NM_000433.4(NCF2):c.609+9G>C
NM_000433.4(NCF2):c.610-15T>G
NM_000433.4(NCF2):c.610-19C>T
NM_000433.4(NCF2):c.612C>A (p.Val204=) rs772322729
NM_000433.4(NCF2):c.618A>G (p.Ala206=) rs2527946266
NM_000433.4(NCF2):c.669+10T>G rs2527945989
NM_000433.4(NCF2):c.669+16C>T rs1672508351
NM_000433.4(NCF2):c.669+17C>A rs1373308818
NM_000433.4(NCF2):c.669+18T>C rs751204541
NM_000433.4(NCF2):c.669+5_669+15del rs2527945958
NM_000433.4(NCF2):c.670-12A>C rs1672438199
NM_000433.4(NCF2):c.670-13G>A rs770372216
NM_000433.4(NCF2):c.670-17T>C rs1460336399
NM_000433.4(NCF2):c.670-20T>C rs2527938948
NM_000433.4(NCF2):c.670-7T>G rs2527938807
NM_000433.4(NCF2):c.687C>G (p.Pro229=) rs2102895145
NM_000433.4(NCF2):c.687C>T (p.Pro229=) rs2102895145
NM_000433.4(NCF2):c.693G>T (p.Pro231=) rs1260688760
NM_000433.4(NCF2):c.6C>T (p.Ser2=)
NM_000433.4(NCF2):c.713+10A>G rs2527938317
NM_000433.4(NCF2):c.714-11A>G rs2527930799
NM_000433.4(NCF2):c.714-17G>T rs1263160201
NM_000433.4(NCF2):c.714-20C>A
NM_000433.4(NCF2):c.714-6C>G rs755290534
NM_000433.4(NCF2):c.714-9C>T rs2527930787
NM_000433.4(NCF2):c.756G>C (p.Val252=) rs2527930342
NM_000433.4(NCF2):c.75C>T (p.Ala25=) rs774369490
NM_000433.4(NCF2):c.777C>T (p.Leu259=) rs771349846
NM_000433.4(NCF2):c.780G>A (p.Gln260=) rs2527930132
NM_000433.4(NCF2):c.789A>G (p.Pro263=) rs2527930081
NM_000433.4(NCF2):c.78G>A (p.Leu26=) rs2528039572
NM_000433.4(NCF2):c.834C>A (p.Ala278=) rs2102890636
NM_000433.4(NCF2):c.855+10G>C rs763690773
NM_000433.4(NCF2):c.855+20_855+23del rs933376245
NM_000433.4(NCF2):c.855+7A>G rs2527929483
NM_000433.4(NCF2):c.855+8G>C rs751011909
NM_000433.4(NCF2):c.856-16T>C rs2102890075
NM_000433.4(NCF2):c.856-7A>C rs1672330468
NM_000433.4(NCF2):c.891T>G (p.Val297=) rs1202266789
NM_000433.4(NCF2):c.900G>A (p.Arg300=) rs2527927880
NM_000433.4(NCF2):c.921C>T (p.Pro307=) rs2527927768
NM_000433.4(NCF2):c.924+7T>A rs1354328395
NM_000433.4(NCF2):c.925-13_925-12del
NM_000433.4(NCF2):c.925-16_925-14del rs2527922712
NM_000433.4(NCF2):c.925-19C>G rs374248950
NM_000433.4(NCF2):c.925-6C>T rs2102887640
NM_000433.4(NCF2):c.925-7C>A rs776843410
NM_000433.4(NCF2):c.925-8G>A rs1408590748
NM_000433.4(NCF2):c.925-8G>T rs1408590748
NM_000433.4(NCF2):c.936T>C (p.Ser312=) rs2527922506
NM_000433.4(NCF2):c.939G>A (p.Pro313=) rs556389548
NM_000433.4(NCF2):c.957T>C (p.Ala319=)
NM_000433.4(NCF2):c.987C>G (p.Pro329=) rs2527921846

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