ClinVar Miner

List of variants in gene FLNC reported by Institute of Human Genetics, University of Wuerzburg

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.352+3C>T rs750255204 0.00001
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) rs1343869103 0.00001
NM_001458.5(FLNC):c.1325C>G (p.Pro442Arg) rs1554397822
NM_001458.5(FLNC):c.2504dup (p.Pro836fs) rs1554398705
NM_001458.5(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp) rs1585159928
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.4192A>G (p.Lys1398Glu) rs1585162066
NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)
NM_001458.5(FLNC):c.4702del (p.Asp1568fs)
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe) rs1808685364
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6429G>T (p.Gln2143His)

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