ClinVar Miner

List of variants reported as uncertain significance for Ectopia lentis

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Total variants: 35
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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.*1477C>A rs886051233
NM_000138.4(FBN1):c.*1635C>A rs886051232
NM_000138.4(FBN1):c.*1672G>A rs886051231
NM_000138.4(FBN1):c.*1733A>G rs886051230
NM_000138.4(FBN1):c.*1943G>T rs886051229
NM_000138.4(FBN1):c.*202_*203del rs766125141
NM_000138.4(FBN1):c.*2078G>T rs886051228
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.*2578C>T rs761025257
NM_000138.4(FBN1):c.*2594G>T rs886051220
NM_000138.4(FBN1):c.*286C>T rs886051241
NM_000138.4(FBN1):c.*406G>T rs886051240
NM_000138.4(FBN1):c.*938G>T rs886051238
NM_000138.4(FBN1):c.*987C>T rs886051237
NM_000138.4(FBN1):c.-132A>C rs886051255
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-387_-384delTCTC rs886051258
NM_000138.4(FBN1):c.-98G>T rs886051254
NM_000138.4(FBN1):c.1468+4C>A rs765579667
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.4(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_019032.5(ADAMTSL4):c.*457_*458GT[1] rs886045271
NM_019032.5(ADAMTSL4):c.1750-10_1750-6del rs886045267
NM_019032.5(ADAMTSL4):c.1893G>A (p.Pro631=) rs112045022
NM_019032.5(ADAMTSL4):c.2178-7C>A rs587746986
NM_019032.5(ADAMTSL4):c.3026_3028CTC[1] (p.Pro1010del) rs755998186

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