ClinVar Miner

List of variants reported as pathogenic for Multiple synostoses syndrome 2

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Total variants: 2
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NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) rs74315388
NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn) rs121909347

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