ClinVar Miner

List of variants in gene FLNA studied for Inborn genetic diseases

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818 0.00011
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872 0.00010
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) rs782555986 0.00004
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr) rs782158357 0.00003
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala) rs368441729 0.00003
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys) rs782580568 0.00002
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766 0.00002
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys) rs782307604 0.00001
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) rs782359458 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) rs781788290 0.00001
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile) rs782190081 0.00001
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)
NM_001110556.2(FLNA):c.1354G>A (p.Gly452Ser)
NM_001110556.2(FLNA):c.1355G>A (p.Gly452Asp) rs2067757148
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
NM_001110556.2(FLNA):c.2021G>A (p.Arg674Lys)
NM_001110556.2(FLNA):c.2899C>T (p.Pro967Ser)
NM_001110556.2(FLNA):c.3350A>G (p.Asn1117Ser) rs1209865046
NM_001110556.2(FLNA):c.3934C>G (p.Arg1312Gly)
NM_001110556.2(FLNA):c.4438G>A (p.Val1480Met)
NM_001110556.2(FLNA):c.5208C>T (p.Phe1736=)
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp) rs1557179659
NM_001110556.2(FLNA):c.5851C>T (p.Arg1951Trp)
NM_001110556.2(FLNA):c.6379+5G>A rs781923813
NM_001110556.2(FLNA):c.6514C>A (p.Gln2172Lys)
NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp) rs1057520156
NM_001110556.2(FLNA):c.7425T>G (p.Asp2475Glu)
NM_001456.3(FLNA):c.3806delG

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