ClinVar Miner

List of variants in gene NNT reported as pathogenic for Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer) rs786205345
NM_182977.3(NNT):c.1259dup (p.His421fs) rs864309519
NM_182977.3(NNT):c.1598C>T (p.Ala533Val) rs387907232
NM_182977.3(NNT):c.211C>T (p.Arg71Ter) rs886039790
NM_182977.3(NNT):c.2930T>C (p.Leu977Pro) rs387907233
NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro) rs387907234
NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys) rs370273690
NM_182977.3(NNT):c.385C>T (p.Arg129Ter) rs886039789
NM_182977.3(NNT):c.600-1del rs786205344
NM_182977.3(NNT):c.644T>C (p.Phe215Ser) rs886039786

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.