ClinVar Miner

List of variants in gene HINT1 reported as pathogenic for Autosomal recessive axonal neuropathy with neuromyotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.152A>G (p.His51Arg) rs397514491
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) rs397514489
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493
NM_005340.7(HINT1):c.283C>T (p.Arg95Ter)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) rs1580682390
NM_005340.7(HINT1):c.99del (p.Phe33fs)

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.