ClinVar Miner

List of variants in gene LOC126807125, SLC39A8 studied for SLC39A8-CDG

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser) rs146759817 0.00032
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met) rs376000562 0.00004
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn) rs864309659
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met) rs1732174032
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter) rs1732173818
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs) rs1553911693
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys) rs1578557666

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.