ClinVar Miner

List of variants in gene FBLN1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser) rs199802935 0.00046
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=) rs147528917 0.00024
NM_006486.3(FBLN1):c.1441+5G>A rs201120975 0.00017
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met) rs766511464 0.00006
NM_006486.3(FBLN1):c.1082C>T (p.Ala361Val) rs143976947 0.00005
NM_006486.3(FBLN1):c.268C>T (p.Arg90Cys) rs886044038 0.00003
NM_006486.3(FBLN1):c.353C>T (p.Ala118Val) rs757837302 0.00003
NM_006486.3(FBLN1):c.1684C>T (p.Arg562Cys) rs775320378 0.00002
NM_006486.3(FBLN1):c.279G>T (p.Thr93=) rs765918593
NM_006486.3(FBLN1):c.309C>G (p.Ala103=) rs767975618
NM_006486.3(FBLN1):c.992C>A (p.Ser331Tyr) rs1555955317

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