ClinVar Miner

List of variants reported as 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
NM_005857.4(ZMPSTE24):c.-194A>G rs187549487
NM_005857.4(ZMPSTE24):c.-211-1058C>G rs7548758
NM_005857.4(ZMPSTE24):c.-211-115G>A rs3765483
NM_005857.4(ZMPSTE24):c.-211-159G>T rs312262683
NM_005857.4(ZMPSTE24):c.-211-311C>G rs11811211
NM_005857.4(ZMPSTE24):c.-211-743G>C rs147867849
NM_005857.4(ZMPSTE24):c.-211-938G>A rs926830
NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs) rs137854889
NM_005857.5(ZMPSTE24):c.*723C>T rs10489431
NM_005857.5(ZMPSTE24):c.*890A>G rs10489432
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) rs121908093
NM_005857.5(ZMPSTE24):c.1020G>A (p.Trp340Ter) rs281875372
NM_005857.5(ZMPSTE24):c.1035A>G (p.Thr345=) rs116496835
NM_005857.5(ZMPSTE24):c.1059+61G>A rs188058932
NM_005857.5(ZMPSTE24):c.1105C>T (p.Arg369Ter) rs281875373
NM_005857.5(ZMPSTE24):c.1204-1G>A rs61751009
NM_005857.5(ZMPSTE24):c.1204-5_1210del rs312262689
NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter) rs121908094
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.1312C>T (p.Leu438Phe) rs116771294
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.1385T>G (p.Leu462Arg) rs281875378
NM_005857.5(ZMPSTE24):c.205_206CT[1] (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.357+114A>G rs7516571
NM_005857.5(ZMPSTE24):c.401del (p.Ser134fs) rs281875366
NM_005857.5(ZMPSTE24):c.474+83A>C rs75470795
NM_005857.5(ZMPSTE24):c.475-2A>G rs312262685
NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs) rs281875360
NM_005857.5(ZMPSTE24):c.54dup (p.Ile19fs) rs281875361
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+18T>G rs16827109
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.628-50T>G rs6677717
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697
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.769+4192C>T rs6676644
NM_005857.5(ZMPSTE24):c.770-131T>C rs78985808
NM_005857.5(ZMPSTE24):c.794A>G (p.Asn265Ser) rs281875371
NM_005857.5(ZMPSTE24):c.826C>T (p.Arg276Ter) rs138606746
NM_005857.5(ZMPSTE24):c.954+2T>A rs312262688
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) rs116284141

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