List of variants in gene ADAMTSL4 reported as pathogenic for isolated ectopia lentis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter)	rs748487774	0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	rs368482584	0.00002
NM_019032.6(ADAMTSL4):c.421C>T (p.Arg141Ter)	rs757318536	0.00001
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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