ClinVar Miner

List of variants in gene FBN1 reported as likely benign by Preventiongenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.6497-49G>A rs370467209 0.00016
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=) rs368979510 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.442+15G>T rs369470506 0.00003
NM_000138.5(FBN1):c.2113+19A>T rs541501178 0.00001
NM_000138.5(FBN1):c.261T>C (p.His87=) rs775220887 0.00001
NM_000138.5(FBN1):c.3204C>T (p.Cys1068=) rs886038248 0.00001
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=) rs886038250 0.00001
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) rs141868829 0.00001
NM_000138.5(FBN1):c.3465C>T (p.Asp1155=) rs886038249
NM_000138.5(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.5(FBN1):c.4881G>T (p.Gly1627=) rs886038251
NM_000138.5(FBN1):c.5788+13_5788+14del rs886038252
NM_000138.5(FBN1):c.6163+50G>A rs886038253
NM_000138.5(FBN1):c.6616+7C>G rs778659143
NM_000138.5(FBN1):c.6998-40del rs193922229

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