ClinVar Miner

List of variants in gene ABCC6 reported as benign by PXE International

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_001171.5(ABCC6):c.*17G>A rs3902401
NM_001171.5(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.5(ABCC6):c.1245G>A (p.Val415=) rs9940825
NM_001171.5(ABCC6):c.1338+20C>G rs12929920
NM_001171.5(ABCC6):c.1338+7C>G rs9940089
NM_001171.5(ABCC6):c.1841T>C (p.Val614Ala) rs12931472
NM_001171.5(ABCC6):c.1890C>G (p.Thr630=) rs8058696
NM_001171.5(ABCC6):c.1896C>A (p.His632Gln) rs8058694
NM_001171.5(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789
NM_001171.5(ABCC6):c.2175A>T (p.Val725=) rs59757815
NM_001171.5(ABCC6):c.2224A>G (p.Ile742Val) rs59593133
NM_001171.5(ABCC6):c.2490C>T (p.Ala830=) rs9924755
NM_001171.5(ABCC6):c.2835C>T (p.Pro945=) rs2856585
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.345+26C>T rs56019914
NM_001171.5(ABCC6):c.3507-16T>C rs3213471
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4208+9G>A rs58760581
NM_001171.5(ABCC6):c.645G>A (p.Thr215=) rs72664282

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.