List of variants reported as pathogenic for congenital hypothyroidism by Myriad Genetics, Inc.

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_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00035
NM_000441.2(SLC26A4):c.1001+1G>A	rs80338849	0.00029
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	rs111033199	0.00019
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	rs111033220	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.1614+1G>A	rs111033312	0.00001
NM_000441.2(SLC26A4):c.918+2T>C	rs912147281	0.00001

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.