List of variants studied for Atelosteogenesis type I by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.906+3A>G	rs750429255	0.00004
NM_001457.4(FLNB):c.3616A>G (p.Met1206Val)	rs756396172	0.00001
NM_001457.4(FLNB):c.4585T>C (p.Ser1529Pro)	rs770433500
NM_001457.4(FLNB):c.5524T>C (p.Phe1842Leu)	rs1178860596
NM_001457.4(FLNB):c.6643A>G (p.Ser2215Gly)	rs2097350829

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