ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 3 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala) rs779509262 0.00017
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) rs750115460 0.00016
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) rs371243793 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.395C>T (p.Thr132Met) rs756217962 0.00011
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=) rs142518256 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys) rs370101143 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.3217C>A (p.His1073Asn) rs374945386 0.00006
NM_001134831.2(AHI1):c.37A>G (p.Lys13Glu) rs763715513 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001134831.2(AHI1):c.128A>G (p.Asn43Ser) rs367736269 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2432A>G (p.Asn811Ser) rs375584168 0.00004
NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala) rs774471595 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.1272T>G (p.Ile424Met) rs752889085 0.00002
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.193G>A (p.Asp65Asn) rs1001283344 0.00002
NM_001134831.2(AHI1):c.194A>C (p.Asp65Ala) rs764230638 0.00002
NM_001134831.2(AHI1):c.214C>A (p.Pro72Thr) rs1173813597 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.242A>G (p.Asp81Gly) rs538208208 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.68A>T (p.His23Leu) rs746992537 0.00002
NM_001134831.2(AHI1):c.868G>A (p.Glu290Lys) rs763856608 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) rs771603649 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.1414C>T (p.Arg472Trp) rs969178984 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys) rs891261493 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.266A>G (p.Asn89Ser) rs1374914353 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.3076G>A (p.Glu1026Lys) rs1054804025 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3197G>A (p.Arg1066Gln) rs544992761 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.3296G>T (p.Gly1099Val) rs1207608724 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3480G>A (p.Met1160Ile) rs952789093 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.53A>G (p.Glu18Gly) rs776505818 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.824A>G (p.Asp275Gly) rs778231180 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.1018G>C (p.Asp340His)
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.1152-19A>G
NM_001134831.2(AHI1):c.1210A>G (p.Met404Val)
NM_001134831.2(AHI1):c.1241A>G (p.Lys414Arg)
NM_001134831.2(AHI1):c.1268A>G (p.Gln423Arg)
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1324A>G (p.Lys442Glu)
NM_001134831.2(AHI1):c.1390G>T (p.Val464Phe)
NM_001134831.2(AHI1):c.1441-14A>G
NM_001134831.2(AHI1):c.1501C>G (p.Pro501Ala)
NM_001134831.2(AHI1):c.1518A>T (p.Arg506=)
NM_001134831.2(AHI1):c.15G>C (p.Glu5Asp)
NM_001134831.2(AHI1):c.164A>C (p.Tyr55Ser)
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1667A>G (p.Glu556Gly)
NM_001134831.2(AHI1):c.1681G>C (p.Val561Leu)
NM_001134831.2(AHI1):c.1759T>A (p.Trp587Arg)
NM_001134831.2(AHI1):c.185A>G (p.Asp62Gly)
NM_001134831.2(AHI1):c.189+18dup
NM_001134831.2(AHI1):c.1897G>A (p.Gly633Arg)
NM_001134831.2(AHI1):c.18T>A (p.Ser6Arg)
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.207C>A (p.Ser69Arg)
NM_001134831.2(AHI1):c.2122G>A (p.Ala708Thr)
NM_001134831.2(AHI1):c.216C>T (p.Pro72=)
NM_001134831.2(AHI1):c.2194G>C (p.Asp732His) rs200697251
NM_001134831.2(AHI1):c.2213G>A (p.Arg738Gln)
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2320T>C (p.Tyr774His)
NM_001134831.2(AHI1):c.235A>G (p.Ser79Gly)
NM_001134831.2(AHI1):c.2366T>C (p.Ile789Thr)
NM_001134831.2(AHI1):c.2380A>G (p.Lys794Glu)
NM_001134831.2(AHI1):c.2440C>T (p.Arg814Cys)
NM_001134831.2(AHI1):c.2465G>A (p.Ser822Asn)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2493-3T>C
NM_001134831.2(AHI1):c.2493A>G (p.Ile831Met)
NM_001134831.2(AHI1):c.2524A>G (p.Asn842Asp)
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2632G>A (p.Val878Ile) rs2128006042
NM_001134831.2(AHI1):c.2665C>G (p.Pro889Ala)
NM_001134831.2(AHI1):c.2675A>G (p.Asp892Gly)
NM_001134831.2(AHI1):c.2701A>G (p.Met901Val)
NM_001134831.2(AHI1):c.2714G>A (p.Cys905Tyr)
NM_001134831.2(AHI1):c.2797T>C (p.Tyr933His)
NM_001134831.2(AHI1):c.2809T>G (p.Phe937Val)
NM_001134831.2(AHI1):c.284G>A (p.Arg95Lys)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3025G>A (p.Val1009Ile)
NM_001134831.2(AHI1):c.3046T>G (p.Leu1016Val)
NM_001134831.2(AHI1):c.3101C>T (p.Thr1034Ile)
NM_001134831.2(AHI1):c.3103C>G (p.Gln1035Glu) rs1401580475
NM_001134831.2(AHI1):c.3127A>G (p.Arg1043Gly)
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile)
NM_001134831.2(AHI1):c.3211A>T (p.Thr1071Ser)
NM_001134831.2(AHI1):c.3217C>T (p.His1073Tyr) rs374945386
NM_001134831.2(AHI1):c.323C>G (p.Thr108Ser)
NM_001134831.2(AHI1):c.3286G>A (p.Gly1096Arg)
NM_001134831.2(AHI1):c.3328A>C (p.Thr1110Pro)
NM_001134831.2(AHI1):c.3335A>T (p.Tyr1112Phe)
NM_001134831.2(AHI1):c.3346C>T (p.Pro1116Ser)
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys)
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)
NM_001134831.2(AHI1):c.347G>C (p.Ser116Thr)
NM_001134831.2(AHI1):c.3499A>C (p.Lys1167Gln)
NM_001134831.2(AHI1):c.3572A>G (p.Lys1191Arg)
NM_001134831.2(AHI1):c.407T>G (p.Leu136Trp)
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.44G>A (p.Arg15His) rs760220297
NM_001134831.2(AHI1):c.472C>T (p.His158Tyr) rs1468753761
NM_001134831.2(AHI1):c.555T>A (p.Asp185Glu)
NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys)
NM_001134831.2(AHI1):c.632A>T (p.Lys211Ile)
NM_001134831.2(AHI1):c.647T>C (p.Leu216Ser)
NM_001134831.2(AHI1):c.649A>T (p.Thr217Ser)
NM_001134831.2(AHI1):c.667A>G (p.Thr223Ala)
NM_001134831.2(AHI1):c.693C>G (p.Ser231Arg)
NM_001134831.2(AHI1):c.707A>C (p.Lys236Thr)
NM_001134831.2(AHI1):c.727G>A (p.Val243Ile)
NM_001134831.2(AHI1):c.749G>A (p.Ser250Asn)
NM_001134831.2(AHI1):c.758C>T (p.Thr253Ile)
NM_001134831.2(AHI1):c.856G>A (p.Glu286Lys)
NM_001134831.2(AHI1):c.863G>A (p.Ser288Asn)
NM_001134831.2(AHI1):c.877A>G (p.Met293Val)
NM_001134831.2(AHI1):c.881A>G (p.Gln294Arg) rs771092146
NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala) rs1790189960
NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala)
NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del) rs1417477245
NM_001134831.2(AHI1):c.932-7C>T
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001134831.2(AHI1):c.980C>T (p.Thr327Ile)
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile) rs777420094

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.