ClinVar Miner

List of variants studied for Joubert syndrome 6 by Broad Institute Rare Disease Group,Broad Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_001142301.1(TMEM67):c.1332+5G>A rs1554555063
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro) rs771718467
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520

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.