List of variants reported as likely pathogenic for Senior-Boichis syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	rs386834180	0.00004
NM_016356.5(DCDC2):c.942del (p.Gly315fs)	rs1554144869	0.00002
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	rs863225227	0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)	rs769957689	0.00001
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)	rs1760494153
NM_016356.5(DCDC2):c.549dup (p.Val184fs)	rs1581640646
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)	rs774115675
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)	rs868404889
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)	rs1813039419

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.