List of variants reported as uncertain significance for Meckel syndrome, type 2 by Counsyl

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)	rs1287246452	0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)	rs1554972406	0.00001
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)	rs1554972400
NM_001173990.3(TMEM216):c.230-9dup	rs1554972934
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)	rs1554972406
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)	rs1554972964
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG	rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA	rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC	rs1554973021

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.