ClinVar Miner

List of variants reported as likely pathogenic for thyroid gland disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs)
NM_001363711.2(DUOX2):c.3516_3531del
NM_001363711.2(DUOX2):c.3646dup (p.Arg1216fs)
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp)
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_207581.4(DUOXA2):c.113_119del (p.Phe38fs)

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.