ClinVar Miner

List of variants in gene ZMPSTE24 studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
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.*59C>A rs193076795 0.00570
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) rs116284141 0.00474
NM_005857.5(ZMPSTE24):c.*733A>G rs75849141 0.00460
NM_005857.5(ZMPSTE24):c.954+3G>A rs112612481 0.00339
NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=) rs115755400 0.00314
NM_005857.5(ZMPSTE24):c.*521A>G rs75622994 0.00309
NM_005857.5(ZMPSTE24):c.*678G>C rs67294434 0.00289
NM_005857.5(ZMPSTE24):c.*1240A>G rs181730348 0.00135
NM_005857.4(ZMPSTE24):c.-172A>C rs151221982 0.00076
NM_005857.5(ZMPSTE24):c.1106G>A (p.Arg369Gln) rs41268053 0.00074
NM_005857.5(ZMPSTE24):c.*909G>A rs770029830 0.00027
NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=) rs115173390 0.00017
NM_005857.5(ZMPSTE24):c.*702C>T rs900182370 0.00015
NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly) rs141386841 0.00013
NM_005857.5(ZMPSTE24):c.1165T>C (p.Leu389=) rs138014589 0.00012
NM_005857.5(ZMPSTE24):c.*296T>C rs990763063 0.00009
NM_005857.5(ZMPSTE24):c.715G>A (p.Glu239Lys) rs267607181 0.00005
NM_005857.5(ZMPSTE24):c.*1503G>A rs899307859 0.00004
NM_005857.5(ZMPSTE24):c.1028G>A (p.Gly343Glu) rs554224406 0.00004
NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=) rs370202496 0.00004
NM_005857.5(ZMPSTE24):c.260C>T (p.Thr87Ile) rs372440430 0.00004
NM_005857.5(ZMPSTE24):c.474G>A (p.Gln158=) rs777632184 0.00004
NM_005857.5(ZMPSTE24):c.1277G>A (p.Gly426Glu) rs371030454 0.00003
NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly) rs200751802 0.00002
NM_005857.5(ZMPSTE24):c.*1140T>C rs1057515452 0.00001
NM_005857.5(ZMPSTE24):c.*1313T>C rs975014449 0.00001
NM_005857.5(ZMPSTE24):c.*248G>A rs1200838897 0.00001
NM_005857.5(ZMPSTE24):c.*38T>C rs374249092 0.00001
NM_005857.5(ZMPSTE24):c.*536C>T rs1057515564 0.00001
NM_005857.5(ZMPSTE24):c.*663T>G rs1254121202 0.00001
NM_005857.5(ZMPSTE24):c.*696A>G rs1057515522 0.00001
NM_005857.5(ZMPSTE24):c.1050T>C (p.Ile350=) rs1057515559 0.00001
NM_005857.5(ZMPSTE24):c.1416G>T (p.Met472Ile) rs763989458 0.00001
NM_005857.5(ZMPSTE24):c.770-14T>C rs770003597 0.00001
NM_005857.5(ZMPSTE24):c.997C>A (p.Leu333Ile) rs756638167 0.00001
NM_005857.5(ZMPSTE24):c.*1042G>A rs1643863795
NM_005857.5(ZMPSTE24):c.*1462A>C rs907545770
NM_005857.5(ZMPSTE24):c.*1492A>G rs1057515561
NM_005857.5(ZMPSTE24):c.*181GAAT[1] rs1040401350
NM_005857.5(ZMPSTE24):c.*212G>T rs1057515560
NM_005857.5(ZMPSTE24):c.*710T>C rs1643862310
NM_005857.5(ZMPSTE24):c.*800T>C rs1643862681
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) rs121908093
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.1133_1137del (p.Gly377_Phe378insTer) rs1217416700
NM_005857.5(ZMPSTE24):c.1259_1270dup (p.Lys423_Lys424insThrPheAlaLys)
NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) rs281875376
NM_005857.5(ZMPSTE24):c.467A>G (p.Asn156Ser) rs747896764
NM_005857.5(ZMPSTE24):c.469C>T (p.Gln157Ter)
NM_005857.5(ZMPSTE24):c.555A>G (p.Leu185=) rs1057515520
NM_005857.5(ZMPSTE24):c.627+1G>C rs312262686
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.743C>T (p.Pro248Leu) rs121908095
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189

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