ClinVar Miner

List of variants in gene DHTKD1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296 0.00086
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg) rs35898320 0.00005
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala) rs762777348 0.00004
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser) rs764415717 0.00002
NM_018706.7(DHTKD1):c.2234A>G (p.Tyr745Cys) rs754487112 0.00001
NM_018706.7(DHTKD1):c.536T>C (p.Phe179Ser) rs1374451398 0.00001
NM_018706.7(DHTKD1):c.2374A>G (p.Ile792Val)
NM_018706.7(DHTKD1):c.2573-13T>G rs2131630525
NM_018706.7(DHTKD1):c.2612C>T (p.Pro871Leu)
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786

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.