ClinVar Miner

List of variants reported by Elahi Laboratory, University of Tehran

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=) rs137854865 0.00133
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val) rs137854864 0.00006
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862 0.00003
NM_000428.3(LTBP2):c.4668G>C (p.Pro1556=) rs137854866 0.00002
NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) rs137854863 0.00001
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly) rs199474693
NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) rs137854858
NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter) rs137854855
NM_000428.3(LTBP2):c.1999A>C (p.Ile667Leu) rs137854859
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_000428.3(LTBP2):c.4720+7G>A rs137854885
NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) rs137854895

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