ClinVar Miner

List of variants studied for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 493
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HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45154
NM_000433.4(NCF2):c.606G>A (p.Ala202=) rs17849501 0.03621
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_000433.4(NCF2):c.1001-10T>G rs36113295 0.01255
NM_000433.4(NCF2):c.174+8G>C rs34009795 0.00565
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 0.00260
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_000433.4(NCF2):c.1552G>C (p.Asp518His) rs143901397 0.00151
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_000433.4(NCF2):c.836C>T (p.Thr279Met) rs13306581 0.00088
NM_000433.4(NCF2):c.367-18C>T rs372513540 0.00078
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00078
NM_000433.4(NCF2):c.175-13C>T rs372630984 0.00071
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_000433.4(NCF2):c.367-16G>A rs55832218 0.00064
NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln) rs147908264 0.00045
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00039
NM_000433.4(NCF2):c.367-17G>A rs189540801 0.00032
NM_000433.4(NCF2):c.714-13C>T rs377217293 0.00026
NM_000433.4(NCF2):c.1178+9C>T rs368136871 0.00021
NM_000433.4(NCF2):c.511C>T (p.Leu171=) rs145354685 0.00021
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) rs119103276 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.197G>A (p.Arg66Gln) rs142803799 0.00014
NM_000433.4(NCF2):c.244T>A (p.Tyr82Asn) rs201003183 0.00014
NM_000433.4(NCF2):c.1291-16C>T rs370204795 0.00012
NM_000433.4(NCF2):c.156C>T (p.Asn52=) rs752384353 0.00012
NM_000433.4(NCF2):c.174+20T>G rs762293872 0.00011
NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp) rs141569987 0.00009
NM_000433.4(NCF2):c.1469-5_1469-2dup rs775939432 0.00009
NM_000433.4(NCF2):c.1543G>A (p.Ala515Thr) rs369006606 0.00008
NM_000433.4(NCF2):c.94G>A (p.Val32Ile) rs201869337 0.00008
NM_000433.4(NCF2):c.112C>T (p.Arg38Trp) rs200824291 0.00007
NM_000433.4(NCF2):c.692C>T (p.Pro231Leu) rs144451516 0.00006
NM_000433.4(NCF2):c.945C>T (p.Ser315=) rs200655126 0.00006
NM_000433.4(NCF2):c.977C>T (p.Pro326Leu) rs369515038 0.00006
NM_000433.4(NCF2):c.21C>G (p.Ile7Met) rs995270345 0.00005
NM_000433.4(NCF2):c.502-16G>A rs374166487 0.00005
NM_000433.4(NCF2):c.1018G>A (p.Glu340Lys) rs755689355 0.00004
NM_000433.4(NCF2):c.1074C>T (p.Tyr358=) rs546373985 0.00004
NM_000433.4(NCF2):c.1542C>T (p.Cys514=) rs769779675 0.00004
NM_000433.4(NCF2):c.194A>G (p.Asn65Ser) rs778546412 0.00004
NM_000433.4(NCF2):c.501+7G>A rs368417422 0.00004
NM_000433.4(NCF2):c.609G>A (p.Thr203=) rs147657171 0.00004
NM_000433.4(NCF2):c.636C>T (p.Asp212=) rs774027102 0.00004
NM_000433.4(NCF2):c.1189C>T (p.Arg397Trp) rs145970396 0.00003
NM_000433.4(NCF2):c.1321G>A (p.Glu441Lys) rs759940920 0.00003
NM_000433.4(NCF2):c.1410T>C (p.Ala470=) rs750384875 0.00003
NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) rs139108402 0.00003
NM_000433.4(NCF2):c.269C>T (p.Ala90Val) rs1439247206 0.00003
NM_000433.4(NCF2):c.501+19C>G rs199846623 0.00003
NM_000433.4(NCF2):c.528G>A (p.Val176=) rs758239702 0.00003
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter) rs766745748 0.00003
NM_000433.4(NCF2):c.737G>A (p.Arg246His) rs768181039 0.00003
NM_000433.4(NCF2):c.821A>G (p.Asn274Ser) rs754118806 0.00003
NM_000433.4(NCF2):c.837G>A (p.Thr279=) rs942486247 0.00003
NM_000433.4(NCF2):c.855+20del rs373262281 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.1082C>T (p.Thr361Met) rs890662812 0.00002
NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg) rs137854513 0.00002
NM_000433.4(NCF2):c.1156C>T (p.Arg386Trp) rs746692621 0.00002
NM_000433.4(NCF2):c.1515T>C (p.Ile505=) rs757201201 0.00002
NM_000433.4(NCF2):c.1546A>G (p.Thr516Ala) rs1038329001 0.00002
NM_000433.4(NCF2):c.1554T>G (p.Asp518Glu) rs534490818 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.304C>T (p.Arg102Ter) rs374402066 0.00002
NM_000433.4(NCF2):c.324C>T (p.Asp108=) rs775020616 0.00002
NM_000433.4(NCF2):c.49G>A (p.Ala17Thr) rs758057222 0.00002
NM_000433.4(NCF2):c.51G>A (p.Ala17=) rs761136334 0.00002
NM_000433.4(NCF2):c.670-9G>A rs746618335 0.00002
NM_000433.4(NCF2):c.849C>T (p.Asn283=) rs767437169 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.1001-6A>C rs773499891 0.00001
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 0.00001
NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys) rs748489095 0.00001
NM_000433.4(NCF2):c.1083G>A (p.Thr361=) rs756157300 0.00001
NM_000433.4(NCF2):c.1126C>T (p.Arg376Trp) rs777251055 0.00001
NM_000433.4(NCF2):c.1128G>C (p.Arg376=) rs1034586485 0.00001
NM_000433.4(NCF2):c.1165C>A (p.His389Asn) rs201325416 0.00001
NM_000433.4(NCF2):c.1178+1G>A rs1352107832 0.00001
NM_000433.4(NCF2):c.1224C>T (p.Asp408=) rs1280414227 0.00001
NM_000433.4(NCF2):c.1242G>T (p.Trp414Cys) rs377591562 0.00001
NM_000433.4(NCF2):c.1290+15G>A rs1451404544 0.00001
NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr) rs886045653 0.00001
NM_000433.4(NCF2):c.1364A>G (p.Gln455Arg) rs142633260 0.00001
NM_000433.4(NCF2):c.1401T>C (p.Ser467=) rs779867537 0.00001
NM_000433.4(NCF2):c.1427T>C (p.Leu476Pro) rs1671976478 0.00001
NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser) rs896210830 0.00001
NM_000433.4(NCF2):c.1486G>A (p.Glu496Lys) rs1482490757 0.00001
NM_000433.4(NCF2):c.1514T>C (p.Ile505Thr) rs937597401 0.00001
NM_000433.4(NCF2):c.1578C>T (p.Val526=) rs781431052 0.00001
NM_000433.4(NCF2):c.157A>G (p.Met53Val) rs993538958 0.00001
NM_000433.4(NCF2):c.174+16T>C rs750867967 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.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000433.4(NCF2):c.23G>T (p.Ser8Ile) rs368880633 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.290C>G (p.Ala97Gly) rs755222977 0.00001
NM_000433.4(NCF2):c.305G>A (p.Arg102Gln) rs137854515 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.366+1G>A rs796065032 0.00001
NM_000433.4(NCF2):c.366+3A>T rs373508925 0.00001
NM_000433.4(NCF2):c.373T>C (p.Tyr125His) rs773422870 0.00001
NM_000433.4(NCF2):c.406G>A (p.Glu136Lys) rs749319711 0.00001
NM_000433.4(NCF2):c.426A>G (p.Glu142=) rs779087160 0.00001
NM_000433.4(NCF2):c.436T>C (p.Leu146=) rs750697066 0.00001
NM_000433.4(NCF2):c.443C>T (p.Thr148Met) rs764142541 0.00001
NM_000433.4(NCF2):c.444G>A (p.Thr148=) rs757064950 0.00001
NM_000433.4(NCF2):c.486G>A (p.Ala162=) rs759074773 0.00001
NM_000433.4(NCF2):c.501+6C>T rs749848761 0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) rs137854508 0.00001
NM_000433.4(NCF2):c.60G>A (p.Lys20=) rs1673581987 0.00001
NM_000433.4(NCF2):c.612C>T (p.Val204=) rs772322729 0.00001
NM_000433.4(NCF2):c.613G>A (p.Val205Met) rs761985515 0.00001
NM_000433.4(NCF2):c.663A>G (p.Gln221=) rs1288798553 0.00001
NM_000433.4(NCF2):c.795C>T (p.Asn265=) rs778431195 0.00001
NM_000433.4(NCF2):c.819C>T (p.Gly273=) rs1672346572 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.856-6C>T rs949958283 0.00001
NM_000433.4(NCF2):c.898C>T (p.Arg300Trp) rs768029053 0.00001
NM_000433.4(NCF2):c.927G>A (p.Glu309=) rs112336681 0.00001
NM_000433.4(NCF2):c.932G>A (p.Ser311Asn) rs1664550664 0.00001
NM_000433.4(NCF2):c.979G>A (p.Gly327Arg) rs138860204 0.00001
NC_000001.10:g.(?_179520308)_(183559464_?)dup
NC_000001.10:g.(?_183529360)_(183586672_?)del
NC_000001.10:g.(?_183536035)_(183536500_?)dup
NC_000001.10:g.(?_183538257)_(183543776_?)del
NC_000001.10:g.(?_183542300)_(183542447_?)del
NC_000001.10:g.(?_183543602)_(183543776_?)del
NC_000001.10:g.(?_183546714)_(183546862_?)del
NC_000001.10:g.(?_183546714)_(183559464_?)dup
NC_000001.10:g.(?_183556010)_(183556132_?)del
NC_000001.10:g.(?_183559271)_(183559464_?)del
NC_000001.11:g.(?_183577579)_(183577727_?)dup
NC_000001.11:g.183563586del
NC_000001.11:g.183586978del rs2102934597
NM_000433.4(NCF2):c.1000+14G>T
NM_000433.4(NCF2):c.1000+15A>G
NM_000433.4(NCF2):c.1000+1G>A rs2102887348
NM_000433.4(NCF2):c.1000+8G>A
NM_000433.4(NCF2):c.1000+8G>T
NM_000433.4(NCF2):c.1001-14dup
NM_000433.4(NCF2):c.1001-4T>G
NM_000433.4(NCF2):c.101A>G (p.Asp34Gly)
NM_000433.4(NCF2):c.1026+11T>C
NM_000433.4(NCF2):c.1026+12C>T rs750073492
NM_000433.4(NCF2):c.1026+16C>T
NM_000433.4(NCF2):c.1026+18T>C
NM_000433.4(NCF2):c.1026+19A>G
NM_000433.4(NCF2):c.1026+1G>C rs1558092897
NM_000433.4(NCF2):c.1027-12del
NM_000433.4(NCF2):c.1027-13C>T
NM_000433.4(NCF2):c.1027-15T>C
NM_000433.4(NCF2):c.1027-19T>G
NM_000433.4(NCF2):c.1027-4T>C
NM_000433.4(NCF2):c.1027-6A>C
NM_000433.4(NCF2):c.1027-6A>T
NM_000433.4(NCF2):c.1029A>G (p.Glu343=)
NM_000433.4(NCF2):c.1035G>A (p.Lys345=)
NM_000433.4(NCF2):c.1038C>T (p.Leu346=)
NM_000433.4(NCF2):c.1038_1039del (p.Ser347fs)
NM_000433.4(NCF2):c.1052C>T (p.Pro351Leu) rs571460195
NM_000433.4(NCF2):c.1053C>T (p.Pro351=) rs2102883171
NM_000433.4(NCF2):c.105C>T (p.Pro35=)
NM_000433.4(NCF2):c.1062C>T (p.Leu354=) rs2102883157
NM_000433.4(NCF2):c.1065G>C (p.Lys355Asn)
NM_000433.4(NCF2):c.1069C>T (p.His357Tyr) rs765400770
NM_000433.4(NCF2):c.1077G>A (p.Lys359=) rs2102883116
NM_000433.4(NCF2):c.1095G>A (p.Lys365=)
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
NM_000433.4(NCF2):c.1104C>T (p.Pro368=)
NM_000433.4(NCF2):c.1107G>A (p.Gly369=)
NM_000433.4(NCF2):c.1116C>T (p.Tyr372=)
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter) rs1572151178
NM_000433.4(NCF2):c.1137G>A (p.Val379=)
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter) rs1349405769
NM_000433.4(NCF2):c.1165_1171del (p.His389fs)
NM_000433.4(NCF2):c.1168A>G (p.Thr390Ala)
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs) rs796065031
NM_000433.4(NCF2):c.1173G>A (p.Lys391=)
NM_000433.4(NCF2):c.1178+13C>T
NM_000433.4(NCF2):c.1178+16G>A
NM_000433.4(NCF2):c.1178+17C>A
NM_000433.4(NCF2):c.1178+20C>T rs1672162365
NM_000433.4(NCF2):c.1179-10C>A
NM_000433.4(NCF2):c.1179-12A>G
NM_000433.4(NCF2):c.1179-20T>C
NM_000433.4(NCF2):c.1179-20T>G
NM_000433.4(NCF2):c.1179-5C>A rs1436515944
NM_000433.4(NCF2):c.1179-7C>T
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.1182_1183delinsCT (p.Arg395Trp)
NM_000433.4(NCF2):c.1183C>A (p.Arg395=) rs13306575
NM_000433.4(NCF2):c.1183C>G (p.Arg395Gly) rs13306575
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000433.4(NCF2):c.1190G>A (p.Arg397Gln)
NM_000433.4(NCF2):c.1191G>A (p.Arg397=)
NM_000433.4(NCF2):c.1194C>A (p.Asp398Glu) rs2102882371
NM_000433.4(NCF2):c.1206G>A (p.Leu402=) rs1672152632
NM_000433.4(NCF2):c.1209G>A (p.Val403=)
NM_000433.4(NCF2):c.1212C>T (p.Pro404=)
NM_000433.4(NCF2):c.1234G>A (p.Asp412Asn)
NM_000433.4(NCF2):c.1245C>A (p.Gly415=)
NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg) rs886045655
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.1268C>G (p.Thr423Ser) rs1672149399
NM_000433.4(NCF2):c.126C>T (p.Asn42=)
NM_000433.4(NCF2):c.1273T>C (p.Trp425Arg) rs373876135
NM_000433.4(NCF2):c.1284C>G (p.Asn428Lys) rs745334269
NM_000433.4(NCF2):c.1284C>T (p.Asn428=)
NM_000433.4(NCF2):c.1287A>G (p.Thr429=) rs2102882126
NM_000433.4(NCF2):c.1290+10A>G
NM_000433.4(NCF2):c.1290+12G>A
NM_000433.4(NCF2):c.1290+15G>C
NM_000433.4(NCF2):c.1290+16G>A rs2102882083
NM_000433.4(NCF2):c.1290+17G>C
NM_000433.4(NCF2):c.1291-13T>C rs1305508752
NM_000433.4(NCF2):c.1291-15C>G rs886045654
NM_000433.4(NCF2):c.1291-3C>T rs1671983911
NM_000433.4(NCF2):c.1291-6T>A
NM_000433.4(NCF2):c.1291-9T>C
NM_000433.4(NCF2):c.129_130delinsCT (p.Gly44Cys)
NM_000433.4(NCF2):c.1321_1325del (p.Lys440_Glu441insTer) rs1472146831
NM_000433.4(NCF2):c.1340C>T (p.Ala447Val) rs747548282
NM_000433.4(NCF2):c.1347C>T (p.Asn449=)
NM_000433.4(NCF2):c.135C>T (p.Cys45=)
NM_000433.4(NCF2):c.1377C>T (p.Gly459=)
NM_000433.4(NCF2):c.1383A>G (p.Gln461=)
NM_000433.4(NCF2):c.138G>A (p.Met46Ile) rs1673575856
NM_000433.4(NCF2):c.1404T>C (p.Tyr468=)
NM_000433.4(NCF2):c.1413C>A (p.Thr471=)
NM_000433.4(NCF2):c.1417C>T (p.Pro473Ser) rs1671977097
NM_000433.4(NCF2):c.1419A>G (p.Pro473=)
NM_000433.4(NCF2):c.1437G>T (p.Gln479His)
NM_000433.4(NCF2):c.1441G>A (p.Gly481Arg) rs1191336717
NM_000433.4(NCF2):c.1441G>C (p.Gly481Arg) rs1191336717
NM_000433.4(NCF2):c.144T>C (p.Thr48=)
NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro) rs1671974257
NM_000433.4(NCF2):c.1468+11C>T
NM_000433.4(NCF2):c.1468+12T>A
NM_000433.4(NCF2):c.1468+18A>G
NM_000433.4(NCF2):c.1468+19C>T
NM_000433.4(NCF2):c.1469-1G>C
NM_000433.4(NCF2):c.1469-5A>G
NM_000433.4(NCF2):c.1469-5_1469-4dup rs1211056275
NM_000433.4(NCF2):c.1486G>C (p.Glu496Gln) rs1482490757
NM_000433.4(NCF2):c.1491G>A (p.Gly497=)
NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs) rs1671770625
NM_000433.4(NCF2):c.1501G>A (p.Gly501Arg)
NM_000433.4(NCF2):c.1503G>T (p.Gly501=)
NM_000433.4(NCF2):c.1508T>C (p.Val503Ala) rs1572142355
NM_000433.4(NCF2):c.1520C>G (p.Pro507Arg)
NM_000433.4(NCF2):c.1523A>G (p.Lys508Arg) rs897063287
NM_000433.4(NCF2):c.1523_1524del (p.Lys508fs)
NM_000433.4(NCF2):c.1540T>C (p.Cys514Arg) rs1467304073
NM_000433.4(NCF2):c.1544C>T (p.Ala515Val) rs1391418738
NM_000433.4(NCF2):c.1550C>T (p.Thr517Ile)
NM_000433.4(NCF2):c.1555T>G (p.Leu519Val) rs2102867422
NM_000433.4(NCF2):c.1567C>T (p.Arg523Trp) rs1484391507
NM_000433.4(NCF2):c.1569_1573del (p.Arg524fs) rs2102867375
NM_000433.4(NCF2):c.1576G>C (p.Val526Leu)
NM_000433.4(NCF2):c.1581G>A (p.Ter527=)
NM_000433.4(NCF2):c.1581G>C (p.Ter527Tyr) rs768748386
NM_000433.4(NCF2):c.168A>G (p.Ala56=)
NM_000433.4(NCF2):c.172A>T (p.Lys58Ter)
NM_000433.4(NCF2):c.172_174del (p.Lys58del)
NM_000433.4(NCF2):c.173A>G (p.Lys58Arg)
NM_000433.4(NCF2):c.174+10G>A
NM_000433.4(NCF2):c.174+11G>A
NM_000433.4(NCF2):c.174+11G>T
NM_000433.4(NCF2):c.174+14C>A
NM_000433.4(NCF2):c.174+14C>G
NM_000433.4(NCF2):c.174+14C>T
NM_000433.4(NCF2):c.175-12T>C
NM_000433.4(NCF2):c.175-15C>T
NM_000433.4(NCF2):c.175-5C>G rs2102934600
NM_000433.4(NCF2):c.175-5C>T
NM_000433.4(NCF2):c.175-8C>A
NM_000433.4(NCF2):c.175-8C>T
NM_000433.4(NCF2):c.175G>A (p.Ala59Thr) rs545984071
NM_000433.4(NCF2):c.195C>T (p.Asn65=) rs2102934485
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter) rs750782115
NM_000433.4(NCF2):c.199G>T (p.Asp67Tyr) rs2102934452
NM_000433.4(NCF2):c.1A>T (p.Met1Leu) rs780810631
NM_000433.4(NCF2):c.200A>G (p.Asp67Gly) rs1673381111
NM_000433.4(NCF2):c.211G>T (p.Ala71Ser) rs2102934403
NM_000433.4(NCF2):c.222C>T (p.Tyr74=)
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)
NM_000433.4(NCF2):c.236del (p.Met79fs)
NM_000433.4(NCF2):c.243C>T (p.Tyr81=)
NM_000433.4(NCF2):c.246C>A (p.Tyr82Ter)
NM_000433.4(NCF2):c.251_254del (p.Thr84fs) rs2102934288
NM_000433.4(NCF2):c.255G>A (p.Glu85=)
NM_000433.4(NCF2):c.257+1G>A rs990043411
NM_000433.4(NCF2):c.258-16T>C
NM_000433.4(NCF2):c.258-18T>A
NM_000433.4(NCF2):c.258-4G>A
NM_000433.4(NCF2):c.258-9G>C rs2102912657
NM_000433.4(NCF2):c.259T>A (p.Tyr87Asn)
NM_000433.4(NCF2):c.259T>C (p.Tyr87His)
NM_000433.4(NCF2):c.280C>T (p.Leu94Phe) rs2102912563
NM_000433.4(NCF2):c.289G>C (p.Ala97Pro) rs1558101108
NM_000433.4(NCF2):c.298C>A (p.Gln100Lys) rs119103276
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) rs119103276
NM_000433.4(NCF2):c.2T>C (p.Met1Thr)
NM_000433.4(NCF2):c.300G>A (p.Gln100=)
NM_000433.4(NCF2):c.30G>A (p.Trp10Ter) rs2102942512
NM_000433.4(NCF2):c.311A>G (p.Asn104Ser) rs2102912424
NM_000433.4(NCF2):c.312C>A (p.Asn104Lys) rs2102912417
NM_000433.4(NCF2):c.312C>T (p.Asn104=)
NM_000433.4(NCF2):c.319A>G (p.Ile107Val) rs1672856679
NM_000433.4(NCF2):c.338G>A (p.Gly113Glu)
NM_000433.4(NCF2):c.339G>C (p.Gly113=)
NM_000433.4(NCF2):c.343C>T (p.Gln115Ter)
NM_000433.4(NCF2):c.359C>T (p.Ala120Val) rs1553258487
NM_000433.4(NCF2):c.360C>A (p.Ala120=)
NM_000433.4(NCF2):c.366+12A>G
NM_000433.4(NCF2):c.366+12dup
NM_000433.4(NCF2):c.366+15dup
NM_000433.4(NCF2):c.366+17C>T
NM_000433.4(NCF2):c.367-11T>A
NM_000433.4(NCF2):c.367-11T>C
NM_000433.4(NCF2):c.367-17_367-16delinsAA rs2102906078
NM_000433.4(NCF2):c.367-1G>A rs759285400
NM_000433.4(NCF2):c.367-4C>G
NM_000433.4(NCF2):c.378C>T (p.Asn126=)
NM_000433.4(NCF2):c.394G>C (p.Ala132Pro)
NM_000433.4(NCF2):c.395C>T (p.Ala132Val) rs1672715788
NM_000433.4(NCF2):c.40del (p.Val14fs) rs1290169467
NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) rs1672714323
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.430T>C (p.Leu144=)
NM_000433.4(NCF2):c.441C>A (p.Ala147=)
NM_000433.4(NCF2):c.443C>A (p.Thr148Lys) rs764142541
NM_000433.4(NCF2):c.453G>A (p.Lys151=)
NM_000433.4(NCF2):c.465A>G (p.Arg155=)
NM_000433.4(NCF2):c.475del (p.Ile159fs)
NM_000433.4(NCF2):c.477C>T (p.Ile159=)
NM_000433.4(NCF2):c.482del (p.Lys161fs) rs1558098982
NM_000433.4(NCF2):c.484G>A (p.Ala162Thr) rs752127520
NM_000433.4(NCF2):c.485C>T (p.Ala162Val)
NM_000433.4(NCF2):c.488T>C (p.Met163Thr)
NM_000433.4(NCF2):c.495T>C (p.Cys165=)
NM_000433.4(NCF2):c.4T>G (p.Ser2Ala)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
NM_000433.4(NCF2):c.501+18G>A
NM_000433.4(NCF2):c.501+20A>C
NM_000433.4(NCF2):c.501+20A>G rs757545051
NM_000433.4(NCF2):c.501+4A>G
NM_000433.4(NCF2):c.502-12T>C
NM_000433.4(NCF2):c.502-17C>A
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
NM_000433.4(NCF2):c.502-7G>T
NM_000433.4(NCF2):c.513A>C (p.Leu171=)
NM_000433.4(NCF2):c.536T>C (p.Val179Ala) rs2102903236
NM_000433.4(NCF2):c.537G>A (p.Val179=)
NM_000433.4(NCF2):c.544C>T (p.Leu182=)
NM_000433.4(NCF2):c.546G>A (p.Leu182=)
NM_000433.4(NCF2):c.550C>A (p.Arg184=)
NM_000433.4(NCF2):c.551G>A (p.Arg184Gln) rs137854518
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del) rs796065033
NM_000433.4(NCF2):c.566A>G (p.Gln189Arg)
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)
NM_000433.4(NCF2):c.577C>T (p.Leu193=)
NM_000433.4(NCF2):c.57G>A (p.Lys19=)
NM_000433.4(NCF2):c.595C>T (p.Leu199=) rs763388019
NM_000433.4(NCF2):c.596T>A (p.Leu199Gln)
NM_000433.4(NCF2):c.608C>T (p.Thr203Met)
NM_000433.4(NCF2):c.609+13G>A
NM_000433.4(NCF2):c.609+13G>T
NM_000433.4(NCF2):c.609+1G>A rs2102903043
NM_000433.4(NCF2):c.609+2T>C
NM_000433.4(NCF2):c.610-3T>C rs1464536922
NM_000433.4(NCF2):c.610-7A>G
NM_000433.4(NCF2):c.610-8G>C
NM_000433.4(NCF2):c.612C>A (p.Val204=)
NM_000433.4(NCF2):c.615G>A (p.Val205=)
NM_000433.4(NCF2):c.618A>G (p.Ala206=)
NM_000433.4(NCF2):c.637A>G (p.Ser213Gly) rs2102898377
NM_000433.4(NCF2):c.645T>C (p.Ser215=) rs745372047
NM_000433.4(NCF2):c.64T>C (p.Trp22Arg) rs1673581250
NM_000433.4(NCF2):c.65G>A (p.Trp22Ter)
NM_000433.4(NCF2):c.669+10T>G
NM_000433.4(NCF2):c.669+16C>T
NM_000433.4(NCF2):c.669+17C>A
NM_000433.4(NCF2):c.669+18T>C
NM_000433.4(NCF2):c.669+1G>A rs2102898304
NM_000433.4(NCF2):c.669+20C>T
NM_000433.4(NCF2):c.669+5_669+15del
NM_000433.4(NCF2):c.669+6G>C rs756905770
NM_000433.4(NCF2):c.670-12A>C
NM_000433.4(NCF2):c.670-13G>A
NM_000433.4(NCF2):c.670-17T>C
NM_000433.4(NCF2):c.670-20T>C
NM_000433.4(NCF2):c.670-4A>G rs777409864
NM_000433.4(NCF2):c.670-7T>G
NM_000433.4(NCF2):c.687C>G (p.Pro229=)
NM_000433.4(NCF2):c.687C>T (p.Pro229=) rs2102895145
NM_000433.4(NCF2):c.68A>T (p.Lys23Met)
NM_000433.4(NCF2):c.693G>T (p.Pro231=) rs1260688760
NM_000433.4(NCF2):c.703G>A (p.Glu235Lys)
NM_000433.4(NCF2):c.713+10A>G
NM_000433.4(NCF2):c.713+4A>G rs2102895069
NM_000433.4(NCF2):c.714-11A>G
NM_000433.4(NCF2):c.714-17G>C
NM_000433.4(NCF2):c.714-17G>T
NM_000433.4(NCF2):c.714-18T>C
NM_000433.4(NCF2):c.714-2A>G
NM_000433.4(NCF2):c.714-5T>G rs1672354679
NM_000433.4(NCF2):c.714-6C>G rs755290534
NM_000433.4(NCF2):c.714-8C>T
NM_000433.4(NCF2):c.714-9C>T
NM_000433.4(NCF2):c.715G>A (p.Ala239Thr)
NM_000433.4(NCF2):c.728del (p.Glu243fs)
NM_000433.4(NCF2):c.739G>T (p.Val247Leu) rs1672351576
NM_000433.4(NCF2):c.741G>C (p.Val247=)
NM_000433.4(NCF2):c.742C>T (p.Leu248=)
NM_000433.4(NCF2):c.743T>G (p.Leu248Arg) rs993917599
NM_000433.4(NCF2):c.756G>C (p.Val252=)
NM_000433.4(NCF2):c.759T>C (p.Pro253=)
NM_000433.4(NCF2):c.75C>T (p.Ala25=)
NM_000433.4(NCF2):c.777C>T (p.Leu259=)
NM_000433.4(NCF2):c.780G>A (p.Gln260=)
NM_000433.4(NCF2):c.789A>G (p.Pro263=)
NM_000433.4(NCF2):c.78G>A (p.Leu26=)
NM_000433.4(NCF2):c.807C>T (p.Val269=)
NM_000433.4(NCF2):c.811AAG[1] (p.Lys272del) rs778751639
NM_000433.4(NCF2):c.812A>G (p.Lys271Arg) rs1558094825
NM_000433.4(NCF2):c.818_832del (p.Gly273_Trp277del) rs1672345384
NM_000433.4(NCF2):c.830G>A (p.Trp277Ter) rs2102890652
NM_000433.4(NCF2):c.834C>A (p.Ala278=) rs2102890636
NM_000433.4(NCF2):c.835_836del (p.Thr279fs) rs1064794299
NM_000433.4(NCF2):c.840C>G (p.Val280=)
NM_000433.4(NCF2):c.855+10G>C
NM_000433.4(NCF2):c.855+11G>A
NM_000433.4(NCF2):c.855+14C>G
NM_000433.4(NCF2):c.855+15A>G
NM_000433.4(NCF2):c.855+17G>C
NM_000433.4(NCF2):c.855+20_855+23del
NM_000433.4(NCF2):c.855+7A>G
NM_000433.4(NCF2):c.855+8G>C
NM_000433.4(NCF2):c.856-16T>C rs2102890075
NM_000433.4(NCF2):c.856-18T>C rs1044330801
NM_000433.4(NCF2):c.856-7A>C
NM_000433.4(NCF2):c.859G>C (p.Gly287Arg) rs1178747743
NM_000433.4(NCF2):c.869C>T (p.Pro290Leu) rs1672329290
NM_000433.4(NCF2):c.872G>C (p.Cys291Ser) rs2102889993
NM_000433.4(NCF2):c.873C>A (p.Cys291Ter)
NM_000433.4(NCF2):c.891T>G (p.Val297=) rs1202266789
NM_000433.4(NCF2):c.897G>A (p.Leu299=)
NM_000433.4(NCF2):c.900G>A (p.Arg300=)
NM_000433.4(NCF2):c.904del (p.His302fs) rs777621636
NM_000433.4(NCF2):c.910C>T (p.Gln304Ter) rs774932046
NM_000433.4(NCF2):c.918G>A (p.Gln306=) rs535561432
NM_000433.4(NCF2):c.921C>T (p.Pro307=)
NM_000433.4(NCF2):c.924+17G>T
NM_000433.4(NCF2):c.924+18C>G
NM_000433.4(NCF2):c.924+7T>A
NM_000433.4(NCF2):c.925-15C>T
NM_000433.4(NCF2):c.925-16_925-14del
NM_000433.4(NCF2):c.925-19C>G
NM_000433.4(NCF2):c.925-2A>G
NM_000433.4(NCF2):c.925-6C>T rs2102887640
NM_000433.4(NCF2):c.925-7C>A
NM_000433.4(NCF2):c.925-8G>A
NM_000433.4(NCF2):c.925-8G>T rs1408590748
NM_000433.4(NCF2):c.930A>T (p.Glu310Asp)
NM_000433.4(NCF2):c.934T>C (p.Ser312Pro) rs1572153511
NM_000433.4(NCF2):c.936T>C (p.Ser312=)
NM_000433.4(NCF2):c.939G>A (p.Pro313=) rs556389548
NM_000433.4(NCF2):c.939G>C (p.Pro313=)
NM_000433.4(NCF2):c.948C>T (p.Asp316=)
NM_000433.4(NCF2):c.958C>G (p.Pro320Ala)
NM_000433.4(NCF2):c.964A>G (p.Ser322Gly)
NM_000433.4(NCF2):c.987C>G (p.Pro329=)
NM_000433.4(NCF2):c.993G>A (p.Leu331=)
NM_000433.4(NCF2):c.999A>G (p.Pro333=)
NM_000433.4(NCF2):c.9G>A (p.Leu3=)

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