ClinVar Miner

List of variants reported as likely pathogenic by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano

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Total variants: 4
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HGVS dbSNP
NC_000010.11:g.133438823_133565257del126435
NC_000015.9:g.83214012_84812693del1598682
NC_000017.11:g.58998109_59157887del159779
NM_006729.4(DIAPH2):c.3242-79706_3242-26582dup

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