ClinVar Miner

List of variants studied for atelosteogenesis type I

Included ClinVar conditions (3):
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Total variants: 37
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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.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001457.4(FLNB):c.906+3A>G rs750429255 0.00004
NM_001457.4(FLNB):c.3724+4G>C rs993620203 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.3616A>G (p.Met1206Val) rs756396172 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
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.442T>A (p.Trp148Arg) rs80356493
NM_001457.4(FLNB):c.4585T>C (p.Ser1529Pro) rs770433500
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del) rs80356498
NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr) rs2107224888
NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser) rs2107224894
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln) rs80356494
NM_001457.4(FLNB):c.517G>A (p.Ala173Thr) rs587777259
NM_001457.4(FLNB):c.518C>T (p.Ala173Val) rs121908894
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.5524T>C (p.Phe1842Leu) rs1178860596
NM_001457.4(FLNB):c.604A>G (p.Met202Val) rs121908895
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro) rs80356497
NM_001457.4(FLNB):c.6643A>G (p.Ser2215Gly) rs2097350829
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) rs1033252725

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