ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NC_000008.11:g.93818128C>T
NM_001142301.1(TMEM67):c.*1434T>C rs886063178
NM_001142301.1(TMEM67):c.*1653G>A rs544858713
NM_001142301.1(TMEM67):c.*179T>C rs886063174
NM_001142301.1(TMEM67):c.*218T>C rs886063175
NM_001142301.1(TMEM67):c.*300G>A rs886063176
NM_001142301.1(TMEM67):c.*853G>A rs191740525
NM_001142301.1(TMEM67):c.*941T>C rs112317911
NM_001142301.1(TMEM67):c.*942G>A rs886063177
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.2313+5G>C rs886063172
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
NM_153704.6(TMEM67):c.*1099A>G
NM_153704.6(TMEM67):c.*1424C>A
NM_153704.6(TMEM67):c.*25C>T
NM_153704.6(TMEM67):c.*279T>C
NM_153704.6(TMEM67):c.*512T>C
NM_153704.6(TMEM67):c.*580A>G
NM_153704.6(TMEM67):c.*690T>A
NM_153704.6(TMEM67):c.*761T>G
NM_153704.6(TMEM67):c.*822G>A
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
NM_153704.6(TMEM67):c.1598G>A (p.Gly533Glu) rs1586063519
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2242-7G>A
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln)
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln)
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)
NM_153704.6(TMEM67):c.2764+10A>T
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
NM_153704.6(TMEM67):c.282T>C (p.Ala94=)
NM_153704.6(TMEM67):c.2907+9T>C
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro) rs771718467
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594

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.