ClinVar Miner

List of variants reported as benign for Ectopia lentis

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Total variants: 22
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HGVS dbSNP
NM_000138.4(FBN1):c.*1084T>C rs3803350
NM_000138.4(FBN1):c.*1368A>G rs77212138
NM_000138.4(FBN1):c.*1562G>T rs78442438
NM_000138.4(FBN1):c.*1575T>G rs4775760
NM_000138.4(FBN1):c.*1959G>A rs12050562
NM_000138.4(FBN1):c.*2040T>C rs73390272
NM_000138.4(FBN1):c.*2158G>A rs11070641
NM_000138.4(FBN1):c.*314C>T rs1042078
NM_000138.4(FBN1):c.*730G>T rs13598
NM_000138.4(FBN1):c.-388C>T rs3825792
NM_000138.4(FBN1):c.156G>T (p.Ala52=) rs25398
NM_000138.4(FBN1):c.1875T>C (p.Asn625=) rs25458
NM_000138.4(FBN1):c.3082+6A>G rs79321504
NM_000138.4(FBN1):c.3464-5G>A rs11853943
NM_000138.4(FBN1):c.5066-14dupT rs3833018
NM_000138.4(FBN1):c.6855T>C (p.Asp2285=) rs363836
NM_000138.4(FBN1):c.6888G>A (p.Gln2296=) rs363830
NM_000138.4(FBN1):c.7819+8A>C rs363838
NM_019032.5(ADAMTSL4):c.2442T>C (p.Asn814=) rs10888382
NM_019032.5(ADAMTSL4):c.2484G>A (p.Pro828=) rs10749657
NM_019032.5(ADAMTSL4):c.577G>C (p.Ala193Pro) rs41317515
NM_019032.5(ADAMTSL4):c.939C>T (p.Gly313=) rs6681639

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