ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.863-3C>T rs955955089 0.00015
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) rs770860280 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser) rs375939213 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.5671+7A>G rs751170564 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser) rs1397580172 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.1961-7T>C rs878853675 0.00002
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn) rs775558051 0.00002
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys) rs1064793112 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3830C>G (p.Thr1277Ser) rs1372986456 0.00001
NM_000138.5(FBN1):c.4636G>T (p.Asp1546Tyr) rs1386298731 0.00001
NM_000138.5(FBN1):c.473G>A (p.Gly158Glu) rs2044515710 0.00001
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His) rs756227025 0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser) rs374520085 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5502C>G (p.Asp1834Glu) rs1566900494 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His) rs748934203 0.00001
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.1468+4C>G rs765579667
NM_000138.5(FBN1):c.151G>A (p.Asp51Asn) rs2140787467
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly) rs745422205
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly) rs1566914907
NM_000138.5(FBN1):c.176G>A (p.Cys59Tyr) rs1555405673
NM_000138.5(FBN1):c.1961-6_1961-5del
NM_000138.5(FBN1):c.1964C>G (p.Thr655Arg) rs779915218
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) rs794728181
NM_000138.5(FBN1):c.2009G>C (p.Cys670Ser)
NM_000138.5(FBN1):c.2209G>A (p.Gly737Arg) rs1597570356
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val) rs1555399370
NM_000138.5(FBN1):c.2353C>T (p.Pro785Ser) rs2141305061
NM_000138.5(FBN1):c.2419+8A>G
NM_000138.5(FBN1):c.2447G>T (p.Cys816Phe) rs397515770
NM_000138.5(FBN1):c.247+5G>A rs2044668542
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr) rs2043594601
NM_000138.5(FBN1):c.2783A>T (p.Asn928Ile) rs1566910929
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val) rs200078617
NM_000138.5(FBN1):c.2887G>C (p.Glu963Gln) rs745709588
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.5(FBN1):c.3589+3A>G rs2043513649
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro) rs1555398382
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser) rs2044551186
NM_000138.5(FBN1):c.380G>A (p.Gly127Asp) rs1566935524
NM_000138.5(FBN1):c.3835G>A (p.Val1279Ile) rs2141289564
NM_000138.5(FBN1):c.3929G>T (p.Gly1310Val) rs2043466303
NM_000138.5(FBN1):c.4027G>T (p.Ala1343Ser) rs2043404775
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.4388A>T (p.Asn1463Ile) rs1555397413
NM_000138.5(FBN1):c.442+8C>T rs771771077
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4562C>G (p.Pro1521Arg)
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser) rs995711019
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val) rs2043337939
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) rs193922208
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.5(FBN1):c.5297-8G>C
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr) rs1566900504
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile) rs1566900477
NM_000138.5(FBN1):c.5645C>T (p.Thr1882Ile)
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val) rs760170973
NM_000138.5(FBN1):c.6079G>C (p.Gly2027Arg) rs1566897404
NM_000138.5(FBN1):c.6185A>T (p.Tyr2062Phe)
NM_000138.5(FBN1):c.6248G>C (p.Cys2083Ser) rs1566896378
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val) rs2141240523
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val) rs2043050574
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7425T>G (p.Ile2475Met)
NM_000138.5(FBN1):c.7453+3A>C
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser) rs1566891675
NM_000138.5(FBN1):c.7676A>T (p.Asp2559Val) rs1289740895
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp) rs1371152380
NM_000138.5(FBN1):c.8339T>A (p.Leu2780His)
NM_000138.5(FBN1):c.8402A>C (p.Asp2801Ala) rs2042859370
NM_000138.5(FBN1):c.8510A>G (p.Tyr2837Cys) rs2042857475
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys) rs1060501028
NM_000138.5(FBN1):c.988+9A>C rs1566919590

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