ClinVar Miner

List of variants studied for atelosteogenesis type III

Included ClinVar conditions (5):
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.292+8C>A rs9831243 0.01775
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_001457.4(FLNB):c.5426-10G>A rs183917041 0.00264
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.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) rs200677473 0.00021
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=) rs200905679 0.00017
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.2523T>G (p.Pro841=) rs376893941 0.00002
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.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.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.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.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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