ClinVar Miner

List of variants studied for Atelosteogenesis type I by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.517G>A (p.Ala173Thr) rs587777259
NM_001457.4(FLNB):c.518C>T (p.Ala173Val) rs121908894
NM_001457.4(FLNB):c.604A>G (p.Met202Val) rs121908895

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