ClinVar Miner

List of variants in gene ZMPSTE24 reported by ZMPSTE24 homepage - Leiden Muscular Dystrophy pages

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005857.5(ZMPSTE24):c.628-50T>G rs6677717 0.98347
NM_005857.5(ZMPSTE24):c.769+4192C>T rs6676644 0.90576
NM_005857.5(ZMPSTE24):c.357+114A>G rs7516571 0.25626
NM_005857.3(ZMPSTE24):c.-1149G>A rs926830 0.25296
NM_005857.3(ZMPSTE24):c.-1269C>G rs7548758 0.10125
NM_005857.5(ZMPSTE24):c.627+18T>G rs16827109 0.08711
NM_005857.5(ZMPSTE24):c.*723C>T rs10489431 0.07425
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_005857.5(ZMPSTE24):c.*890A>G rs10489432 0.07352
NM_005857.5(ZMPSTE24):c.474+83A>C rs75470795 0.02253
NM_005857.3(ZMPSTE24):c.-954G>C rs147867849 0.01144
NM_005857.5(ZMPSTE24):c.770-131T>C rs78985808 0.00984
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) rs116284141 0.00508
NM_005857.5(ZMPSTE24):c.1059+61G>A rs188058932 0.00163
NM_005857.5(ZMPSTE24):c.1035A>G (p.Thr345=) rs116496835 0.00024
NM_005857.5(ZMPSTE24):c.1312C>T (p.Leu438Phe) rs116771294 0.00010
NM_005857.5(ZMPSTE24):c.794A>G (p.Asn265Ser) rs281875371 0.00003
NM_005857.5(ZMPSTE24):c.1020G>A (p.Trp340Ter) rs281875372 0.00002
NM_005857.5(ZMPSTE24):c.1204-1G>A rs61751009 0.00001
NM_005857.5(ZMPSTE24):c.1385T>G (p.Leu462Arg) rs281875378 0.00001
NM_005857.5(ZMPSTE24):c.475-2A>G rs312262685 0.00001
NM_005857.3(ZMPSTE24):c.-522C>G rs11811211
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) rs121908093
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.1105C>T (p.Arg369Ter) rs281875373
NM_005857.5(ZMPSTE24):c.1204-5_1210del rs312262689
NM_005857.5(ZMPSTE24):c.124-2A>C rs312262684
NM_005857.5(ZMPSTE24):c.1249C>T (p.Gln417Ter) rs281875374
NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422fs) rs281875375
NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) rs281875376
NM_005857.5(ZMPSTE24):c.1356C>G (p.Phe452Leu) rs281875377
NM_005857.5(ZMPSTE24):c.207_208del (p.Tyr70fs) rs281875362
NM_005857.5(ZMPSTE24):c.209_210del (p.Tyr70fs) rs281875363
NM_005857.5(ZMPSTE24):c.281T>C (p.Leu94Pro) rs281875364
NM_005857.5(ZMPSTE24):c.296del (p.Pro99fs) rs281875365
NM_005857.5(ZMPSTE24):c.401del (p.Ser134fs) rs281875366
NM_005857.5(ZMPSTE24):c.591dup (p.Ile198fs) rs281875367
NM_005857.5(ZMPSTE24):c.592_593del (p.Ile198fs) rs281875368
NM_005857.5(ZMPSTE24):c.627+1G>C rs312262686
NM_005857.5(ZMPSTE24):c.628-2A>G rs312262687
NM_005857.5(ZMPSTE24):c.628-50T>C rs6677717
NM_005857.5(ZMPSTE24):c.691G>T (p.Glu231Ter) rs281875369
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) rs281875370
NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter) rs267607181
NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu) rs121908095
NM_005857.5(ZMPSTE24):c.826C>T (p.Arg276Ter) rs138606746
NM_005857.5(ZMPSTE24):c.954+2T>A rs312262688

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.