ClinVar Miner

List of variants in gene INF2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301 0.88426
NM_022489.4(INF2):c.2611-122G>C rs4497619 0.85993
NM_022489.4(INF2):c.1+171A>G rs4247030 0.81791
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535 0.79980
NM_022489.4(INF2):c.3041-56C>T rs9672043 0.79969
NM_022489.4(INF2):c.2490-292T>C rs4983534 0.76301
NM_022489.4(INF2):c.2239+256G>A rs12882277 0.66145
NM_022489.4(INF2):c.2489+117C>T rs4983533 0.58806
NM_022489.4(INF2):c.2489+53T>C rs4983531 0.58773
NM_022489.4(INF2):c.2489+62G>C rs4983532 0.58722
NM_022489.4(INF2):c.2310+8del rs3840006 0.58720
NM_022489.4(INF2):c.2611-84G>A rs10144190 0.53555
NM_022489.4(INF2):c.391+321C>T rs11160817 0.45914
NM_022489.4(INF2):c.1+174C>T rs4247031 0.45277
NM_022489.4(INF2):c.1950-231C>T rs73345596 0.27583
NM_022489.4(INF2):c.2239+157T>C rs56322618 0.23182
NM_022489.4(INF2):c.668-31G>A rs7145851 0.19890
NM_022489.4(INF2):c.*2-48_*2-47del rs138798126 0.18413
NM_022489.4(INF2):c.668-78T>G rs7146817 0.17531
NM_022489.4(INF2):c.668-90G>A rs7145815 0.17512
NM_022489.4(INF2):c.1949+171G>A rs533346206 0.16061
NM_022489.4(INF2):c.1949+170del rs67389203 0.16058
NM_022489.4(INF2):c.1736-175C>T rs113514625 0.11854
NM_022489.4(INF2):c.702-57G>A rs79559717 0.11839
NM_022489.4(INF2):c.668-32C>T rs7145566 0.07508
NM_022489.4(INF2):c.2775+15C>T rs73347508 0.06749
NM_022489.4(INF2):c.1735+106G>A rs114087680 0.06552
NM_022489.4(INF2):c.-10G>A rs115602636 0.05904
NM_022489.4(INF2):c.1736-51G>A rs117034570 0.05877
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser) rs34251364 0.05864
NM_022489.4(INF2):c.843+16C>T rs118017785 0.05808
NM_022489.4(INF2):c.668-140_668-135del rs199612689 0.05793
NM_022489.4(INF2):c.668-144_668-142del rs374945781 0.05793
NM_022489.4(INF2):c.844-36C>T rs7142337 0.05364
NM_022489.4(INF2):c.2418+43C>A rs60660079 0.05051
NM_022489.4(INF2):c.3041-75G>A rs13379430 0.04818
NM_022489.4(INF2):c.1227G>T (p.Ser409=) rs3809455 0.03433
NM_022489.4(INF2):c.*2-278G>A rs79826755 0.03152
NM_022489.4(INF2):c.1+185C>T rs74395064 0.02740
NM_022489.4(INF2):c.2878+61C>T rs73347510 0.02736
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492 0.02373
NM_022489.4(INF2):c.2489+292C>T rs112598276 0.02290
NM_022489.4(INF2):c.391+18A>T rs115458897 0.02077
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_022489.4(INF2):c.843+294C>T rs147294109 0.01772
NM_022489.4(INF2):c.392-184G>A rs115735784 0.01698
NM_022489.4(INF2):c.668-82C>G rs75836310 0.01467
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005 0.01396
NM_022489.4(INF2):c.2490-301G>A rs112480223 0.01324
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.844-252T>C rs112186582 0.01190
NM_022489.4(INF2):c.843+33C>T rs145596224 0.01186
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_022489.4(INF2):c.2489+115G>A rs117278745 0.01184
NM_022489.4(INF2):c.701+281C>G rs118092663 0.01180
NM_022489.4(INF2):c.391+17G>A rs4074531 0.01087
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_022489.4(INF2):c.1735+73G>A rs146732870 0.01017
NM_022489.4(INF2):c.392-230C>T rs74091142 0.00975
NM_022489.4(INF2):c.392-247C>G rs115994445 0.00974
NM_022489.4(INF2):c.701+27C>T rs55981430 0.00973
NM_022489.4(INF2):c.1888-33C>T rs111887340 0.00949
NM_022489.4(INF2):c.843+212C>T rs115533334 0.00857
NM_022489.4(INF2):c.3040+142G>A rs115119366 0.00820
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478 0.00781
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086 0.00779
NM_022489.4(INF2):c.2878+23G>A rs144778200 0.00698
NM_022489.4(INF2):c.1950-151A>G rs149470784 0.00697
NM_022489.4(INF2):c.844-146T>C rs117710656 0.00612
NM_022489.4(INF2):c.2239+165C>T rs562266294 0.00582
NM_022489.4(INF2):c.*10C>T rs142710295 0.00580
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00532
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975 0.00483
NM_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114 0.00477
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_022489.4(INF2):c.*1+142C>T rs142139206 0.00466
NM_022489.4(INF2):c.-9-302C>G rs76259288 0.00465
NM_022489.4(INF2):c.2775+97G>A rs146906579 0.00330
NM_022489.4(INF2):c.2489+200G>A rs148878017 0.00327
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270 0.00272
NM_022489.4(INF2):c.-9-37C>T rs142345234 0.00267
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868 0.00250
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249 0.00248
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311 0.00242
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427 0.00214
NM_022489.4(INF2):c.1735+42G>A rs190829431 0.00175
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_022489.4(INF2):c.2490-32G>A rs199892463 0.00153
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449 0.00150
NM_022489.4(INF2):c.1281A>C (p.Pro427=) rs754332692 0.00140
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244 0.00134
NM_022489.4(INF2):c.1736-48A>G rs200316139 0.00131
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594 0.00116
NM_022489.4(INF2):c.2879-27G>A rs202124201 0.00111
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_022489.4(INF2):c.2489+21C>T rs201432578 0.00076
NM_022489.4(INF2):c.2611-42G>A rs140767529 0.00068
NM_022489.4(INF2):c.2052+50G>A rs201873894 0.00063
NM_022489.4(INF2):c.*16C>T rs199912466 0.00058
NM_022489.4(INF2):c.2138+12C>T rs186410473 0.00051
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln) rs199801767 0.00047
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr) rs189559257 0.00043
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_022489.4(INF2):c.*2-29A>G rs374763306 0.00036
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113 0.00036
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955 0.00036
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094 0.00034
NM_022489.4(INF2):c.3476G>A (p.Arg1159His) rs200591522 0.00033
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_022489.4(INF2):c.3040+16A>G rs367565825 0.00020
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439 0.00016
NM_022489.4(INF2):c.1736-6C>T rs371991103 0.00015
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465 0.00012
NM_022489.4(INF2):c.1736-41G>A rs757125435 0.00012
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp) rs138577569 0.00011
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782 0.00011
NM_022489.4(INF2):c.3040+21C>T rs368662410 0.00011
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp) rs1166010216 0.00010
NM_022489.4(INF2):c.3040+11C>T rs374390500 0.00010
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937 0.00010
NM_022489.4(INF2):c.1197C>T (p.His399=) rs746493706 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_022489.4(INF2):c.3695-21G>A rs200543313 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_022489.4(INF2):c.668-12G>A rs367924307 0.00008
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_022489.4(INF2):c.1304C>T (p.Ala435Val) rs777455096 0.00007
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys) rs369987125 0.00007
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe) rs753188664 0.00006
NM_022489.4(INF2):c.1614C>T (p.Ile538=) rs201561899 0.00006
NM_022489.4(INF2):c.2419-14G>A rs746955943 0.00005
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334 0.00005
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008 0.00005
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp) rs374049468 0.00005
NM_022489.4(INF2):c.1147G>A (p.Val383Met) rs780689756 0.00004
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.1791C>T (p.Pro597=) rs377222356 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2240-5T>C rs765264633 0.00004
NM_022489.4(INF2):c.3611C>T (p.Ser1204Leu) rs376222605 0.00004
NM_022489.4(INF2):c.3694+16G>A rs556924432 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_022489.4(INF2):c.519C>T (p.Ser173=) rs780247558 0.00004
NM_022489.4(INF2):c.701+19G>A rs371962265 0.00004
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.985+10C>T rs755849718 0.00003
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu) rs1375222598 0.00002
NM_022489.4(INF2):c.1615G>A (p.Val539Met) rs769014945 0.00002
NM_022489.4(INF2):c.1887+8C>T rs569295413 0.00002
NM_022489.4(INF2):c.2005G>A (p.Val669Met) rs756038490 0.00002
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe) rs770882784 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1503C>T (p.Pro501=) rs1057520913 0.00001
NM_022489.4(INF2):c.2139-11G>A rs1057523138 0.00001
NM_022489.4(INF2):c.2550C>T (p.Thr850=) rs771112980 0.00001
NM_022489.4(INF2):c.2598C>T (p.Thr866=) rs552110857 0.00001
NM_022489.4(INF2):c.2611-12C>T rs1057522725 0.00001
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr) rs774099930 0.00001
NM_022489.4(INF2):c.2879-20G>C rs879254306 0.00001
NM_022489.4(INF2):c.2897A>G (p.Lys966Arg) rs879254296 0.00001
NM_022489.4(INF2):c.2991C>T (p.Asp997=) rs1057523828 0.00001
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr) rs200246759 0.00001
NM_022489.4(INF2):c.3494C>T (p.Ala1165Val) rs771044828 0.00001
NM_022489.4(INF2):c.3523G>A (p.Asp1175Asn) rs765901404 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.508-13G>A rs764942605 0.00001
NM_022489.4(INF2):c.549C>T (p.Asn183=) rs1555373624 0.00001
NM_022489.4(INF2):c.782G>A (p.Arg261Gln) rs749543418 0.00001
NM_022489.4(INF2):c.*2-294A>G rs4247033
NM_022489.4(INF2):c.*25A>G rs541048885
NM_022489.4(INF2):c.-10G>C rs115602636
NM_022489.4(INF2):c.-9-240G>T rs556761581
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln) rs374769850
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1288C>T (p.Leu430Phe) rs1131691501
NM_022489.4(INF2):c.1377G>C (p.Pro459=) rs776870726
NM_022489.4(INF2):c.1500G>C (p.Pro500=) rs755670925
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1589del (p.Val530fs) rs879254321
NM_022489.4(INF2):c.1666C>T (p.Arg556Trp) rs879254313
NM_022489.4(INF2):c.1736-38dup rs149923432
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr) rs530285485
NM_022489.4(INF2):c.1810C>T (p.Arg604Ter) rs1260381635
NM_022489.4(INF2):c.1950-4C>G rs539363877
NM_022489.4(INF2):c.2052+12A>G rs1342540362
NM_022489.4(INF2):c.2080G>A (p.Glu694Lys)
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.2239+170del rs34003576
NM_022489.4(INF2):c.230T>G (p.Leu77Arg) rs1595163851
NM_022489.4(INF2):c.2331C>A (p.Ala777=) rs1293312025
NM_022489.4(INF2):c.2418+47C>T rs751037480
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr) rs767351070
NM_022489.4(INF2):c.2517G>A (p.Glu839=) rs561061092
NM_022489.4(INF2):c.25C>A (p.Arg9Ser) rs1889485557
NM_022489.4(INF2):c.2611-41C>A rs145794141
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2726C>T (p.Thr909Met) rs201336550
NM_022489.4(INF2):c.2776-81C>G rs138919548
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.2878+22G>C rs201633273
NM_022489.4(INF2):c.2878+22G>T rs201633273
NM_022489.4(INF2):c.3040+286C>A rs76501953
NM_022489.4(INF2):c.3041-146C>G rs118061751
NM_022489.4(INF2):c.3041-90G>A rs146081430
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3406T>A (p.Ser1136Thr)
NM_022489.4(INF2):c.3427G>A (p.Ala1143Thr)
NM_022489.4(INF2):c.3513_3518del (p.1171DE[2])
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln) rs1064796974
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.667+212T>G rs7146454
NM_022489.4(INF2):c.829T>C (p.Ser277Pro)
NM_022489.4(INF2):c.843+239G>A rs75458917
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
NM_022489.4(INF2):c.973C>T (p.Leu325=) rs1057521829
NM_022489.4(INF2):c.985+65G>C rs7147340
NM_022489.4(INF2):c.985+66G>A rs57402537
NM_022489.4(INF2):c.985+66G>C rs57402537

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