ClinVar Miner

List of variants in gene ABCC9 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_020297.4(ABCC9):c.4512+745_4512+746del rs778425119 0.00045
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) rs368079660 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020297.4(ABCC9):c.1212C>T (p.Ser404=) rs376726505 0.00003
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459 0.00003
NM_020297.4(ABCC9):c.497G>A (p.Arg166His) rs772244404 0.00002
NM_020297.4(ABCC9):c.1578A>G (p.Leu526=) rs748429545 0.00001
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=) rs746467455 0.00001
NM_020297.4(ABCC9):c.1770G>A (p.Thr590=) rs746239063 0.00001
NM_020297.4(ABCC9):c.3138C>A (p.Gly1046=) rs936939979 0.00001
NM_020297.4(ABCC9):c.1134_1135del (p.Glu378fs) rs1592213116
NM_020297.4(ABCC9):c.1257T>C (p.Ile419=)
NM_020297.4(ABCC9):c.2231C>A (p.Thr744Asn)
NM_020297.4(ABCC9):c.2291C>T (p.Ala764Val)
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=) rs779866340
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.3346C>G (p.Arg1116Gly)
NM_020297.4(ABCC9):c.3487C>T (p.Leu1163Phe) rs932123639
NM_020297.4(ABCC9):c.3893-7C>T rs769051998
NM_020297.4(ABCC9):c.4018C>T (p.Gln1340Ter)
NM_020297.4(ABCC9):c.4512+733C>G rs1416247885
NM_020297.4(ABCC9):c.4512+743_4512+744insAAA
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+745T>G
NM_020297.4(ABCC9):c.4512+746_4512+747del

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.