ClinVar Miner

List of variants reported as likely pathogenic for Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg)	rs137854863	0.00001
NM_000428.3(LTBP2):c.3652+1G>A	rs773910322
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)	rs387907175

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