ClinVar Miner

List of variants in gene ZMPSTE24 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005857.5(ZMPSTE24):c.*733A>G rs75849141 0.00460
NM_005857.5(ZMPSTE24):c.954+3G>A rs112612481 0.00363
NM_005857.5(ZMPSTE24):c.*678G>C rs67294434 0.00289
NM_005857.5(ZMPSTE24):c.*1240A>G rs181730348 0.00135
NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=) rs115173390 0.00017
NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=) rs370202496 0.00004

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