ClinVar Miner

List of variants in gene FBLN1 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006486.3(FBLN1):c.74C>T (p.Ala25Val) rs528661383 0.00316
NM_006486.3(FBLN1):c.62C>T (p.Ala21Val) rs573558018 0.00219
NM_006486.3(FBLN1):c.1685G>A (p.Arg562His) rs146772136 0.00022
NM_006486.3(FBLN1):c.490A>G (p.Ile164Val) rs145471003 0.00019
NM_006486.3(FBLN1):c.1441+5G>A rs201120975 0.00017
NM_006486.3(FBLN1):c.1821C>T (p.Arg607=) rs757106014 0.00013
NM_006486.3(FBLN1):c.1490G>A (p.Arg497His) rs148852554 0.00009
NM_006486.3(FBLN1):c.1957G>A (p.Asp653Asn) rs372903194 0.00007
NM_006486.3(FBLN1):c.378C>T (p.Cys126=) rs144410933 0.00007
NM_006486.3(FBLN1):c.1396C>T (p.Arg466Trp) rs748749795 0.00006
NM_006486.3(FBLN1):c.2080G>A (p.Val694Ile) rs761373665 0.00005
NM_006486.3(FBLN1):c.304G>A (p.Glu102Lys) rs138539092 0.00005
NM_006486.3(FBLN1):c.89A>G (p.Asp30Gly) rs754853610 0.00005
NM_006486.3(FBLN1):c.1468G>A (p.Gly490Arg) rs145539977 0.00003
NM_006486.3(FBLN1):c.1792C>T (p.His598Tyr) rs368410267 0.00002
NM_006486.3(FBLN1):c.152C>T (p.Ser51Leu) rs772445995 0.00001
NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln) rs770004900 0.00001
NM_006486.3(FBLN1):c.2047G>A (p.Gly683Arg) rs755466681 0.00001
NM_006486.3(FBLN1):c.730C>T (p.Arg244Trp) rs549459139 0.00001
NM_006486.3(FBLN1):c.1202A>G (p.Asn401Ser) rs2518182964
NM_006486.3(FBLN1):c.1282G>T (p.Val428Leu) rs200614579
NM_006486.3(FBLN1):c.1642G>T (p.Gly548Cys) rs147123076
NM_006486.3(FBLN1):c.1727G>A (p.Arg576His)
NM_006486.3(FBLN1):c.1855C>T (p.Arg619Trp)
NM_006486.3(FBLN1):c.1865C>T (p.Thr622Met)
NM_006486.3(FBLN1):c.1871C>T (p.Pro624Leu)
NM_006486.3(FBLN1):c.1973-5C>A rs376739185
NM_006486.3(FBLN1):c.2018T>C (p.Val673Ala) rs2518248472
NM_006486.3(FBLN1):c.2066G>A (p.Arg689Gln)
NM_006486.3(FBLN1):c.311C>T (p.Thr104Ile)
NM_006486.3(FBLN1):c.544+3G>A
NM_006486.3(FBLN1):c.58C>T (p.Leu20Phe) rs1434686879
NM_006486.3(FBLN1):c.661A>G (p.Ile221Val) rs146491057
NM_006486.3(FBLN1):c.74C>A (p.Ala25Asp) rs528661383

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