ClinVar Miner

List of variants reported as pathogenic for Ectopia lentis et pupillae by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_019032.6(ADAMTSL4):c.421C>T (p.Arg141Ter)	rs757318536	0.00001
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs)	rs747160538
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	rs199473693

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