ClinVar Miner

List of variants reported as pathogenic for Frontometaphyseal dysplasia 1

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Total variants: 2
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NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) rs28935471
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312

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