ClinVar Miner

List of variants reported as pathogenic for Pseudoxanthoma elasticum by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_15796991)_(16317329_?)del
NG_007558.2:g.(60799_60814)_(77206_77221)del
NM_001171.5(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744
NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
NM_001171.5(ABCC6):c.3775del (p.Trp1259fs) rs72664233
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3892G>T (p.Val1298Phe) rs63751325
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823
NM_001171.5(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702
NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.5(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) rs387906352
NM_001171.5(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524

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.