ClinVar Miner

List of variants in gene ABCC8 reported by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373

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.