ClinVar Miner

List of variants reported as pathogenic for isolated ectopia lentis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_019032.6(ADAMTSL4):c.1785T>G (p.Tyr595Ter) rs118203985 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter) rs748487774 0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_019032.6(ADAMTSL4):c.421C>T (p.Arg141Ter) rs757318536 0.00001
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1708T>A (p.Cys570Ser)
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.491del (p.Asn164fs) rs2044515447
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr) rs1597535300
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
NM_019032.6(ADAMTSL4):c.1436del (p.Gly479fs) rs1672096009
NM_019032.6(ADAMTSL4):c.1656del (p.Thr553fs)
NM_019032.6(ADAMTSL4):c.1786C>T (p.Gln596Ter)
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs) rs747160538
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs) rs747160538
NM_019032.6(ADAMTSL4):c.2397C>A (p.Cys799Ter)
NM_019032.6(ADAMTSL4):c.239del (p.Pro80fs) rs794726689
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019032.6(ADAMTSL4):c.789dup (p.Ser264fs)
NM_019032.6(ADAMTSL4):c.79-1G>A rs587776927
NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs) rs794726688
NM_019032.6(ADAMTSL4):c.950G>A (p.Trp317Ter) rs2101584216
NM_019032.6(ADAMTSL4):c.963_964insT (p.Thr322fs) rs2101584597

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