List of variants reported as pathogenic for TSPAN12-related vitreoretinopathy by OMIM

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met)	rs538591733	0.00001
NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg)	rs267607151	0.00001
NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro)	rs200519776	0.00001
C181F
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs)	rs1554403626
NM_012338.4(TSPAN12):c.285+1G>A	rs587777285
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His)	rs267607152
NM_012338.4(TSPAN12):c.361-5_361-1del	rs794726655
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys)	rs587777283
NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter)	rs267607153
NM_012338.4(TSPAN12):c.67-1G>C	rs587777284
NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro)	rs267607154

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.