ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly)
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
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.2739_2741TCT[1] (p.Leu915del)
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) rs745809472
NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del) rs1555598065
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
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.793_795GAG[5] (p.Glu268dup) rs780100856
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_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
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.