ClinVar Miner

List of variants reported as pathogenic for Holt-Oram syndrome by Comparative, Adaptive and Functional Skeletal Biology,CCMAR - University of Algarve

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Total variants: 1
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HGVS dbSNP
NM_000192.3(TBX5):c.246_249del (p.Met83fs) rs1565941587

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