ClinVar Miner

List of variants in gene FLNB reported as pathogenic for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.1243C>T (p.Arg415Ter) rs775714153 0.00001
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter) rs80356519 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_001457.4(FLNB):c.1204del (p.Val402fs) rs2107062364
NM_001457.4(FLNB):c.1346-1358_1941+403del
NM_001457.4(FLNB):c.1429delinsCT (p.Val477fs) rs2107082636
NM_001457.4(FLNB):c.1493del (p.Glu498fs) rs2107092260
NM_001457.4(FLNB):c.1592dup (p.His532fs) rs746105983
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001457.4(FLNB):c.3127-354_4223-1836del
NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser) rs2107224894
NM_001457.4(FLNB):c.512T>G (p.Leu171Arg) 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.5548G>T (p.Gly1850Ter) rs121908898
NM_001457.4(FLNB):c.5555-5_5561del rs1575457582
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) rs775301566
NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter) rs121908897
NM_001457.4(FLNB):c.604A>G (p.Met202Val) rs121908895
NM_001457.4(FLNB):c.6408del (p.Ser2137fs) rs80356521
NM_001457.4(FLNB):c.703T>C (p.Ser235Pro) rs121908896

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