ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000138.5(FBN1):c.2168-46A>G rs140605 0.35180
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000138.5(FBN1):c.5066-35C>T rs77105137 0.07470
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000138.5(FBN1):c.6497-23G>C rs3825962 0.03208
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_000138.5(FBN1):c.6617-21A>T rs363823 0.02754
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.2855-29A>G rs140589 0.00725
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
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.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
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.7379A>G (p.Lys2460Arg) rs144189837 0.00008
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.2600A>G (p.Asn867Ser) rs145464311 0.00004
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.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.261T>C (p.His87=) rs775220887 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr) rs748915171 0.00001
NM_000138.5(FBN1):c.3204C>T (p.Cys1068=) rs886038248 0.00001
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser) rs1437464599 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.365G>A (p.Arg122His) rs1010750845 0.00001
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser) rs140647 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.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
NM_000138.5(FBN1):c.1348A>G (p.Thr450Ala) rs1566916727
NM_000138.5(FBN1):c.1518C>G (p.Asn506Lys)
NM_000138.5(FBN1):c.163G>A (p.Gly55Arg)
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
NM_000138.5(FBN1):c.1924G>A (p.Gly642Arg)
NM_000138.5(FBN1):c.2165G>A (p.Ser722Asn)
NM_000138.5(FBN1):c.2374_2378del (p.Cys792fs)
NM_000138.5(FBN1):c.2510C>T (p.Thr837Ile)
NM_000138.5(FBN1):c.2678-15C>A rs181681840
NM_000138.5(FBN1):c.2768dup (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.3465C>T (p.Asp1155=) rs886038249
NM_000138.5(FBN1):c.3554del (p.Gly1185fs)
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609
NM_000138.5(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.5(FBN1):c.3713-1_3728delinsC
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.4516C>A (p.Pro1506Thr)
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr) rs1131691871
NM_000138.5(FBN1):c.4881G>T (p.Gly1627=) rs886038251
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5141T>C (p.Met1714Thr)
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5544T>G (p.Asn1848Lys)
NM_000138.5(FBN1):c.5671+28dup rs55649234
NM_000138.5(FBN1):c.5788+13_5788+14del rs886038252
NM_000138.5(FBN1):c.6163+50G>A rs886038253
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6488A>T (p.Glu2163Val)
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp) rs1566895247
NM_000138.5(FBN1):c.6616+7C>G rs778659143
NM_000138.5(FBN1):c.6710T>A (p.Val2237Glu)
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe) rs1555393831

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