List of variants in gene FLNB reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.1592dup (p.His532fs)	rs746105983
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg)	rs28937587
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg)	rs80356513
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)	rs80356506
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)	rs80356503
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.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.679G>A (p.Glu227Lys)	rs80356508
NM_001457.4(FLNB):c.703T>C (p.Ser235Pro)	rs121908896

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