ClinVar Miner

List of variants in gene FLNB studied for Atelosteogenesis type III

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu) rs368472521 0.00005
NM_001457.4(FLNB):c.6164G>A (p.Gly2055Asp) rs375752014 0.00004
NM_001457.4(FLNB):c.776C>T (p.Ala259Val) rs376619286 0.00003
NM_001457.4(FLNB):c.1739G>T (p.Gly580Val) rs2097257677
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys) rs940585956
NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro) rs80356501
NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser) rs80356502
NM_001457.4(FLNB):c.5696T>A (p.Ile1899Asn)
NM_001457.4(FLNB):c.602C>T (p.Ala201Val) rs80356499
NM_001457.4(FLNB):c.604A>G (p.Met202Val) rs121908895
NM_001457.4(FLNB):c.629G>T (p.Gly210Val) rs80356500
NM_001457.4(FLNB):c.644T>A (p.Ile215Asn) rs2097209399
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu) rs144321868

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