ClinVar Miner

List of variants in gene TMEM231 studied for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) rs1176007249
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys)
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077418.3(TMEM231):c.-15C>T rs138060715
NM_001077418.3(TMEM231):c.-40C>G rs114889548
NM_001077418.3(TMEM231):c.-6G>C rs3743602
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092
NM_001077418.3(TMEM231):c.139+39G>C
NM_001077418.3(TMEM231):c.139+42G>A
NM_001077418.3(TMEM231):c.139+47C>A rs200063331
NM_001077418.3(TMEM231):c.140-15C>T rs201518524
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.140-30A>C
NM_001077418.3(TMEM231):c.140-33C>G
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
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.376C>T (p.Leu126=) rs557695110
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.438+5G>C
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+17T>A rs2738801
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+6A>G rs376300743
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.583-20A>T rs375984875
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_001077418.3(TMEM231):c.665-10T>C
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288
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.771-4A>C rs199768195
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.798A>G (p.Val266=) rs772364535
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950
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.