ClinVar Miner

List of variants in gene LTBP2 studied for Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) rs137854863 0.00001
NM_000428.3(LTBP2):c.1253G>T (p.Cys418Phe) rs2087671679
NM_000428.3(LTBP2):c.3652+1G>A rs773910322
NM_000428.3(LTBP2):c.4033+1G>C rs2506133762
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr) rs387907175
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) rs121918355

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