ClinVar Miner

List of variants reported as not provided by Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000053.4(ATP7B):c.222G>C (p.Lys74Asn) rs587776496
NM_000182.5(HADHA):c.2083G>A (p.Ala695Thr) rs587776501
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000862.3(HSD3B1):c.712A>T (p.Arg238Trp) rs587776503
NM_001093.4(ACACB):c.6964G>A (p.Ala2322Thr) rs587776495
NM_002489.4(NDUFA4):c.77C>T (p.Ala26Val) rs587776505
NM_016417.3(GLRX5):c.129G>C (p.Glu43Asp) rs587776500
NM_017547.4(FOXRED1):c.1341del (p.Ile448fs) rs587776499
NM_017990.4(PDPR):c.85A>G (p.Thr29Ala) rs200469748
NM_153006.3(NAGS):c.505A>T (p.Met169Leu) rs569174201

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.