ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance for Weill-Marchesani syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_000138.4(FBN1):c.*1007G>T rs886051236
NM_000138.4(FBN1):c.*1396C>T rs886051235
NM_000138.4(FBN1):c.*1398G>C rs886051234
NM_000138.4(FBN1):c.*1477C>A rs886051233
NM_000138.4(FBN1):c.*1635C>A rs886051232
NM_000138.4(FBN1):c.*1672G>A rs886051231
NM_000138.4(FBN1):c.*1706C>A rs770825180
NM_000138.4(FBN1):c.*1733A>G rs886051230
NM_000138.4(FBN1):c.*1943G>T rs886051229
NM_000138.4(FBN1):c.*202_*203delAT rs766125141
NM_000138.4(FBN1):c.*2078G>T rs886051228
NM_000138.4(FBN1):c.*2091G>A rs575922741
NM_000138.4(FBN1):c.*2114T>A rs886051227
NM_000138.4(FBN1):c.*2221A>G rs886051226
NM_000138.4(FBN1):c.*2260C>A rs886051225
NM_000138.4(FBN1):c.*2421C>A rs886051224
NM_000138.4(FBN1):c.*2443G>T rs886051223
NM_000138.4(FBN1):c.*2533C>A rs886051222
NM_000138.4(FBN1):c.*254C>T rs886051243
NM_000138.4(FBN1):c.*2556G>A rs886051221
NM_000138.4(FBN1):c.*2578C>T rs761025257
NM_000138.4(FBN1):c.*2594G>T rs886051220
NM_000138.4(FBN1):c.*2638T>C rs886051219
NM_000138.4(FBN1):c.*268G>C rs886051242
NM_000138.4(FBN1):c.*286C>T rs886051241
NM_000138.4(FBN1):c.*406G>T rs886051240
NM_000138.4(FBN1):c.*724A>C rs886051239
NM_000138.4(FBN1):c.*938G>T rs886051238
NM_000138.4(FBN1):c.*948G>T rs749224599
NM_000138.4(FBN1):c.*987C>T rs886051237
NM_000138.4(FBN1):c.-132A>C rs886051255
NM_000138.4(FBN1):c.-136G>C rs879283668
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-319G>T rs886051256
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-387_-384delTCTC rs886051258
NM_000138.4(FBN1):c.-70C>A rs886051253
NM_000138.4(FBN1):c.-98G>T rs886051254
NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.4(FBN1):c.1468+4C>A rs765579667
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.164+5A>G rs397515760
NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.4(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) rs145464311
NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) rs144339604
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945
NM_000138.4(FBN1):c.4336+11G>A rs886051249
NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr) rs776625874
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.4(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182
NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379
NM_000138.4(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) rs193922245

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