ClinVar Miner

List of variants in gene FLNB reported as uncertain significance for atelosteogenesis type III

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) rs148101195 0.00043
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) rs773943113 0.00022
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu) rs368472521 0.00005
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001457.4(FLNB):c.6164G>A (p.Gly2055Asp) rs375752014 0.00004
NM_001457.4(FLNB):c.3724+4G>C rs993620203 0.00003
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) rs369949841 0.00003
NM_001457.4(FLNB):c.776C>T (p.Ala259Val) rs376619286 0.00003
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) rs200947960 0.00002
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg) rs779765790 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys) rs940585956
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln) rs755928543
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) rs886044175
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627
NM_001457.4(FLNB):c.5696T>A (p.Ile1899Asn)
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) rs1033252725
NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) rs2107340030
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu) rs144321868

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