ClinVar Miner

List of variants reported as likely benign for Hypoparathyroidism-retardation-dysmorphism syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.-93T>A rs114193373 0.00614
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00440
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003193.5(TBCE):c.1400-14T>C rs150827657 0.00276
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu) rs114972093 0.00121
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_003193.5(TBCE):c.*108A>G rs78867315 0.00065
NM_003193.5(TBCE):c.1492-14C>T rs147400126 0.00027
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00018

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.