List of variants reported as pathogenic for congenital hypothyroidism by Illumina Laboratory Services, Illumina

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003235.5(TG):c.886C>T (p.Arg296Ter)	rs121912648	0.00041
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)	rs191759494	0.00024
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)	rs189261858	0.00023
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)	rs121908866	0.00021
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter)	rs180671269	0.00017
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	rs121908088	0.00016
NM_001206744.2(TPO):c.2422del (p.Cys808fs)	rs763662774	0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00009
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys)	rs121908085	0.00005
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)	rs763941231

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.