ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 430
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000007.13:g.(?_130038777_130039476del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NM_001044385.3(TMEM237):c.*1008A>G
NM_001044385.3(TMEM237):c.*1108A>G rs758086204
NM_001044385.3(TMEM237):c.*1148A>G
NM_001044385.3(TMEM237):c.*1151C>T rs188943302
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1330C>T
NM_001044385.3(TMEM237):c.*1378A>G rs886055443
NM_001044385.3(TMEM237):c.*1382C>T
NM_001044385.3(TMEM237):c.*1436G>T
NM_001044385.3(TMEM237):c.*1560C>T
NM_001044385.3(TMEM237):c.*1561G>A
NM_001044385.3(TMEM237):c.*1603T>G rs886055442
NM_001044385.3(TMEM237):c.*1606T>C
NM_001044385.3(TMEM237):c.*1655G>A
NM_001044385.3(TMEM237):c.*1762G>A rs886055441
NM_001044385.3(TMEM237):c.*1835C>T
NM_001044385.3(TMEM237):c.*1879G>A
NM_001044385.3(TMEM237):c.*1890G>A
NM_001044385.3(TMEM237):c.*1965G>A
NM_001044385.3(TMEM237):c.*2044T>C rs886055440
NM_001044385.3(TMEM237):c.*2141C>T rs147652455
NM_001044385.3(TMEM237):c.*2307A>G
NM_001044385.3(TMEM237):c.*2448C>A
NM_001044385.3(TMEM237):c.*2465A>G rs527921749
NM_001044385.3(TMEM237):c.*2495C>G
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C
NM_001044385.3(TMEM237):c.*2652A>G
NM_001044385.3(TMEM237):c.*2670C>T
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*2960C>A rs188637429
NM_001044385.3(TMEM237):c.*2964T>A
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T
NM_001044385.3(TMEM237):c.*308T>G rs185380807
NM_001044385.3(TMEM237):c.*3123T>A
NM_001044385.3(TMEM237):c.*3350A>T
NM_001044385.3(TMEM237):c.*3385C>T rs374762322
NM_001044385.3(TMEM237):c.*3517A>G
NM_001044385.3(TMEM237):c.*3697G>A rs761856568
NM_001044385.3(TMEM237):c.*3728A>G rs555315551
NM_001044385.3(TMEM237):c.*3855A>G rs187328136
NM_001044385.3(TMEM237):c.*3992A>G
NM_001044385.3(TMEM237):c.*3997A>G
NM_001044385.3(TMEM237):c.*3C>A
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*492T>C rs530304720
NM_001044385.3(TMEM237):c.*62A>G
NM_001044385.3(TMEM237):c.*663G>C
NM_001044385.3(TMEM237):c.*74T>C
NM_001044385.3(TMEM237):c.*781G>A
NM_001044385.3(TMEM237):c.*895C>G
NM_001044385.3(TMEM237):c.*940A>C
NM_001044385.3(TMEM237):c.*962A>C
NM_001044385.3(TMEM237):c.*969A>G
NM_001044385.3(TMEM237):c.*987C>T rs568084746
NM_001044385.3(TMEM237):c.-59G>A rs886055449
NM_001044385.3(TMEM237):c.-61G>A rs571550977
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
NM_001044385.3(TMEM237):c.137-3T>C
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
NM_001044385.3(TMEM237):c.396-13G>A
NM_001044385.3(TMEM237):c.42+1G>A
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
NM_001044385.3(TMEM237):c.553+2dup
NM_001044385.3(TMEM237):c.553+3dup
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.869+4A>G
NM_001044385.3(TMEM237):c.869+5T>C
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) rs1176007249
NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys)
NM_001077418.3(TMEM231):c.-40C>G rs114889548
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521
NM_001077418.3(TMEM231):c.140-30A>C
NM_001077418.3(TMEM231):c.140-33C>G
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.582+6A>G rs376300743
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1146T>A
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1327C>T
NM_001134831.2(AHI1):c.*1404A>G
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1568A>T
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*1684T>C
NM_001134831.2(AHI1):c.*216G>A
NM_001134831.2(AHI1):c.*246T>C
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*484G>A
NM_001134831.2(AHI1):c.*588A>G rs555215397
NM_001134831.2(AHI1):c.*68C>T rs886061108
NM_001134831.2(AHI1):c.*793A>G rs191324834
NM_001134831.2(AHI1):c.*80C>T rs536580823
NM_001134831.2(AHI1):c.*981C>T
NM_001134831.2(AHI1):c.-214C>T rs183265971
NM_001134831.2(AHI1):c.-332C>G
NM_001134831.2(AHI1):c.-347C>T
NM_001134831.2(AHI1):c.-53A>G
NM_001134831.2(AHI1):c.-54G>T
NM_001134831.2(AHI1):c.10+13T>C
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly)
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
NM_001134831.2(AHI1):c.1780-3T>C
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
NM_001134831.2(AHI1):c.189+12T>C
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496
NM_001134831.2(AHI1):c.1912+15T>G
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys)
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=)
NM_001134831.2(AHI1):c.2492+15G>A rs535243555
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2962-13G>A
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys)
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704
NM_001134831.2(AHI1):c.3109+14T>A
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) rs745809472
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile) rs760184188
NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del) rs1555597302
NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal) rs1555597266
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT rs1555597194
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1467del (p.Phe489fs) rs780161503
NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs) rs1555596710
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) rs772719574
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.1584del (p.Met529fs) rs1555596555
NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter) rs1555596538
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.50+198_50+220del rs1244307754
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) rs587779734
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1191G>A
NM_018718.3(CEP41):c.*1205G>T
NM_018718.3(CEP41):c.*1284A>G
NM_018718.3(CEP41):c.*1328T>A
NM_018718.3(CEP41):c.*1341A>C
NM_018718.3(CEP41):c.*1352G>A
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1538A>C
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*1644A>G
NM_018718.3(CEP41):c.*1646G>A
NM_018718.3(CEP41):c.*1766T>C
NM_018718.3(CEP41):c.*1768G>T
NM_018718.3(CEP41):c.*1773A>G
NM_018718.3(CEP41):c.*1974A>G
NM_018718.3(CEP41):c.*1981G>A
NM_018718.3(CEP41):c.*2111A>G
NM_018718.3(CEP41):c.*2116T>C
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C
NM_018718.3(CEP41):c.*2226G>A
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*2669A>G
NM_018718.3(CEP41):c.*2709G>A
NM_018718.3(CEP41):c.*2725C>T
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2781A>G
NM_018718.3(CEP41):c.*2786A>C
NM_018718.3(CEP41):c.*2849A>G
NM_018718.3(CEP41):c.*287C>T
NM_018718.3(CEP41):c.*3040G>A
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3097T>C
NM_018718.3(CEP41):c.*3193C>T rs886061989
NM_018718.3(CEP41):c.*3274G>A rs112007936
NM_018718.3(CEP41):c.*333C>T rs886062000
NM_018718.3(CEP41):c.*3451G>A rs144534675
NM_018718.3(CEP41):c.*3541G>A
NM_018718.3(CEP41):c.*3708A>T
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
NM_018718.3(CEP41):c.*409A>C rs782042681
NM_018718.3(CEP41):c.*4216C>T rs187549864
NM_018718.3(CEP41):c.*4244C>G rs544508687
NM_018718.3(CEP41):c.*4322G>A
NM_018718.3(CEP41):c.*4343C>G
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4385C>T
NM_018718.3(CEP41):c.*4391G>A rs782450438
NM_018718.3(CEP41):c.*4417G>A rs886061988
NM_018718.3(CEP41):c.*4464T>C rs886061987
NM_018718.3(CEP41):c.*4505G>T
NM_018718.3(CEP41):c.*4539C>T
NM_018718.3(CEP41):c.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4714T>C
NM_018718.3(CEP41):c.*4769C>T
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.*4908G>A rs552988501
NM_018718.3(CEP41):c.*4973C>T rs760160179
NM_018718.3(CEP41):c.*4994T>C rs527933839
NM_018718.3(CEP41):c.*5068G>A rs148856430
NM_018718.3(CEP41):c.*55G>A
NM_018718.3(CEP41):c.*578T>C
NM_018718.3(CEP41):c.*593G>A rs186685101
NM_018718.3(CEP41):c.*614A>G
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*682A>G
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*740C>T
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*776G>A
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*832A>C
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.*881G>A
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
NM_018718.3(CEP41):c.145+3A>G
NM_018718.3(CEP41):c.145+5G>A
NM_018718.3(CEP41):c.145+6del
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
NM_018718.3(CEP41):c.643-6T>A
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429
NM_018718.3(CEP41):c.757+11T>C
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.973+404_1077del
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
Single allele

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.