ClinVar Miner

List of variants in gene NNT reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_012343.3(NNT):c.1107_1110del (p.His370Terfs) rs786205345
NM_012343.3(NNT):c.1259dupG (p.His421Serfs) rs864309519
NM_012343.3(NNT):c.1598C>T (p.Ala533Val) rs387907232
NM_012343.3(NNT):c.211C>T (p.Arg71Ter) rs886039790
NM_012343.3(NNT):c.2930T>C (p.Leu977Pro) rs387907233
NM_012343.3(NNT):c.3022G>C (p.Ala1008Pro) rs387907234
NM_012343.3(NNT):c.3027T>G (p.Asn1009Lys) rs370273690
NM_012343.3(NNT):c.385C>T (p.Arg129Ter) rs886039789
NM_012343.3(NNT):c.600-1del rs786205344
NM_012343.3(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.