ClinVar Miner

List of variants in gene TBCE studied for Hypoparathyroidism-retardation-dysmorphism syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
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.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003193.5(TBCE):c.737+11C>T rs181223923 0.00064
NM_003193.5(TBCE):c.945C>T (p.Asn315=) rs138014826 0.00060
NM_003193.5(TBCE):c.835T>C (p.Leu279=) rs147049084 0.00033
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00018
NM_003193.5(TBCE):c.446C>G (p.Ala149Gly) rs150187679 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003193.5(TBCE):c.460+14C>T rs143717755 0.00014
NM_003193.5(TBCE):c.738-12T>A rs370888603 0.00012
NM_003193.5(TBCE):c.909G>A (p.Thr303=) rs202063874 0.00012
NM_003193.5(TBCE):c.-68G>C rs754235694 0.00011
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_003193.5(TBCE):c.1263C>G (p.Leu421=) rs199943206 0.00008
NM_003193.5(TBCE):c.963+8C>G rs199555636 0.00006
NM_003193.5(TBCE):c.808C>T (p.Leu270=) rs200169233 0.00003
NM_003193.5(TBCE):c.1270+9G>A rs748495327 0.00002
NM_003193.5(TBCE):c.70C>T (p.Arg24Cys) rs750637765 0.00002
NM_003193.5(TBCE):c.1125C>T (p.Pro375=) rs762683460 0.00001
NM_003193.5(TBCE):c.1270+4del rs774067348 0.00001
NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr) rs372421061 0.00001
NM_003193.5(TBCE):c.-92C>G rs886046147
NM_003193.5(TBCE):c.100+13TG[25] rs10524346
NM_003193.5(TBCE):c.100+13TG[27] rs10524346
NM_003193.5(TBCE):c.100+13TG[28] rs10524346
NM_003193.5(TBCE):c.100+15T>G rs886046149
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter) rs121908384
NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys) rs750744949
NM_003193.5(TBCE):c.155G>A (p.Ser52Asn) rs2102857663
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.159C>T (p.His53=) rs754279473
NM_003193.5(TBCE):c.66_67del (p.Val23fs) rs1572324681
NM_003193.5(TBCE):c.737+15C>T rs886046150
NM_003193.5(TBCE):c.981G>A (p.Glu327=) rs886046151
Single allele

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.