List of variants studied for atelosteogenesis type I by GeneReviews

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.442T>A (p.Trp148Arg)	rs80356493
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del)	rs80356498
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln)	rs80356494
NM_001457.4(FLNB):c.542G>T (p.Gly181Val)	rs80356495
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp)	rs80356496
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro)	rs80356497

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