List of variants reported as pathogenic for congenital hypothyroidism 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	rs111033308	0.00006
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000441.2(SLC26A4):c.1341+1G>C	rs376653349	0.00002
NM_000441.2(SLC26A4):c.1707+5G>A	rs192366176	0.00001
NM_000441.2(SLC26A4):c.349del (p.Leu117fs)	rs1275009555	0.00001
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)	rs1374999656
NM_000441.2(SLC26A4):c.164+2T>C	rs397516420
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter)	rs1554361584
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)	rs142656144
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)	rs1057517303
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)	rs1057516658
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	rs1057516953
NM_000441.2(SLC26A4):c.416-1G>A	rs1057516988
NM_000441.2(SLC26A4):c.600+2T>A	rs1057516881

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.