ClinVar Miner

List of variants in gene ABCC9 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_005691.3(ABCC9):c.1011+1G>A rs1565477732
NM_005691.3(ABCC9):c.1385T>C (p.Val462Ala) rs1001916923
NM_005691.3(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026
NM_005691.3(ABCC9):c.1911+2T>C rs1131691589
NM_005691.3(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253
NM_005691.3(ABCC9):c.2019+2T>C rs1555100687
NM_005691.3(ABCC9):c.2378A>T (p.Asp793Val) rs1057521640
NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) rs193922683
NM_005691.3(ABCC9):c.2815C>T (p.Arg939Trp) rs373890183
NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_005691.3(ABCC9):c.3347G>T (p.Arg1116Leu) rs387907227
NM_005691.3(ABCC9):c.3520C>T (p.His1174Tyr) rs786205475
NM_005691.3(ABCC9):c.3637T>G (p.Ser1213Ala) rs1064794779
NM_005691.3(ABCC9):c.3650G>A (p.Arg1217Lys) rs12298510
NM_005691.3(ABCC9):c.3656T>G (p.Leu1219Arg) rs1064794780
NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_005691.3(ABCC9):c.4407T>G (p.Ile1469Met) rs1057521820
NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) rs1057516044

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.