ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_001044385.3(TMEM237):c.136+1G>T
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
NM_001077418.3(TMEM231):c.438+5G>C
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
NM_001134831.2(AHI1):c.2037-1G>C
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1136-2A>G rs1488635637
NM_001165927.1(MKS1):c.1364del (p.Pro455fs) rs865870355
NM_001165927.1(MKS1):c.1378-2A>G rs1555596943
NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs) rs1555596845
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) rs386834046
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.337dup (p.Arg113fs) rs775043799
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) rs756853299
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.485+2T>G rs1376664664
NM_001165927.1(MKS1):c.50+232A>G rs1555601787
NM_001165927.1(MKS1):c.50+282_50+286dup rs386834051
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_001165927.1(MKS1):c.828+1G>A rs756102768
NM_001165927.1(MKS1):c.994+1G>A rs199874059
NM_001165927.1(MKS1):c.995-2A>C rs794727070
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379

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.