ClinVar Miner

List of variants studied for congenital secretory chloride diarrhea 1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.344del (p.Ile115fs) rs386833478 0.00001
NM_000111.3(SLC26A3):c.1386G>A (p.Trp462Ter) rs121913033
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.3(SLC26A3):c.371A>T (p.His124Leu) rs121913030
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000111.3(SLC26A3):c.735+708_971+1514del
NM_000111.3(SLC26A3):c.951_953del (p.Val318del) rs386833491

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.