ClinVar Miner

List of variants in gene FLNB reported as pathogenic for not provided

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Total variants: 39
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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.1006C>T (p.Gln336Ter) rs375699133
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp) rs794727854
NM_001457.4(FLNB):c.1091T>A (p.Leu364Ter)
NM_001457.4(FLNB):c.1109del (p.Ile370fs) rs1352510294
NM_001457.4(FLNB):c.1351_1370del (p.Asn451fs)
NM_001457.4(FLNB):c.1398_1420del (p.Val467fs)
NM_001457.4(FLNB):c.1665G>A (p.Trp555Ter)
NM_001457.4(FLNB):c.2629A>T (p.Lys877Ter)
NM_001457.4(FLNB):c.2911dup (p.Ala971fs)
NM_001457.4(FLNB):c.303del (p.Ile102fs)
NM_001457.4(FLNB):c.3695_3696del (p.Lys1232fs)
NM_001457.4(FLNB):c.4014del (p.Glu1340fs)
NM_001457.4(FLNB):c.4387C>T (p.Arg1463Ter)
NM_001457.4(FLNB):c.4439_4440dup (p.Val1481fs) rs2107212252
NM_001457.4(FLNB):c.4470_4473dup (p.Met1492fs) rs2107212379
NM_001457.4(FLNB):c.44dup (p.Lys16fs)
NM_001457.4(FLNB):c.4738T>G (p.Tyr1580Asp)
NM_001457.4(FLNB):c.4781A>C (p.Tyr1594Ser)
NM_001457.4(FLNB):c.501C>G (p.Asp167Glu) rs746892435
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001457.4(FLNB):c.518C>T (p.Ala173Val) rs121908894
NM_001457.4(FLNB):c.5325_5326del (p.Glu1775fs)
NM_001457.4(FLNB):c.5337del (p.Asn1779fs)
NM_001457.4(FLNB):c.5461del (p.Ser1821fs)
NM_001457.4(FLNB):c.5745C>A (p.Cys1915Ter)
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) rs775301566
NM_001457.4(FLNB):c.613G>T (p.Ala205Ser) rs2106952084
NM_001457.4(FLNB):c.6210del (p.Ile2070fs)
NM_001457.4(FLNB):c.623G>A (p.Trp208Ter)
NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter) rs886043158
NM_001457.4(FLNB):c.6780C>G (p.Tyr2260Ter)
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) rs80356508
NM_001457.4(FLNB):c.7231C>T (p.Arg2411Ter)
NM_001457.4(FLNB):c.7472_7473del (p.Glu2491fs) rs2107344308
NM_001457.4(FLNB):c.89dup (p.Lys31fs) rs2106654966
NM_001457.4(FLNB):c.910C>T (p.Gln304Ter)

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