List of variants reported as pathogenic for Atelosteogenesis type I

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser)	rs2107224894
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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