ClinVar Miner

List of variants reported as association for Thyroxine-binding globulin quantitative trait locus

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000354.6(SERPINA7):c.1114del (p.Leu372fs) rs587776719 0.00002
NM_000354.5(SERPINA7):c.1148C>T (p.Pro383Leu) rs72554658 0.00001
NM_000354.5(SERPINA7):c.899G>A (p.Trp300Ter) rs121909496 0.00001
NM_000354.6(SERPINA7):c.740T>C (p.Leu247Pro) rs28937312 0.00001
GRCh38/hg38 Xq22.2(chrX:106032435-106038727)x2,3
NC_000023.11:g.106033704del rs2147840474
NM_000354.5(SERPINA7):c.1044+5G>A rs587776722
NM_000354.5(SERPINA7):c.397G>C (p.Ala133Pro) rs28933688
NM_000354.5(SERPINA7):c.623-2A>G rs587776720
NM_000354.6(SERPINA7):c.1203_1221del (p.Ser402fs) rs765816848
NM_000354.6(SERPINA7):c.174del (p.Val59fs) rs587776721
NM_000354.6(SERPINA7):c.555del (p.Val186fs) rs483352903
NM_000354.6(SERPINA7):c.661del (p.Asp221fs) rs2147841751
NM_000354.6(SERPINA7):c.909del (p.Leu303fs) rs2147841010

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.