ClinVar Miner

List of variants reported for not provided by ZMPSTE24 homepage - Leiden Muscular Dystrophy pages

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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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.-326G>A rs3765483 0.10147
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_005857.4(ZMPSTE24):c.-194A>G rs187549487 0.00437
NM_005857.5(ZMPSTE24):c.1059+61G>A rs188058932 0.00163
NM_005857.3(ZMPSTE24):c.-370G>T rs312262683 0.00051
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.54dup (p.Ile19fs) rs281875361 0.00003
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.121C>T (p.Gln41Ter) rs121908094 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.50del (p.Lys17fs) rs281875360
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

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