ClinVar Miner

List of variants in gene ADAMTS17 reported as likely pathogenic by Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)
NM_139057.4(ADAMTS17):c.1630G>T (p.Gly544Ter)
NM_139057.4(ADAMTS17):c.2560C>T (p.Arg854Ter)

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