List of variants reported as pathogenic for Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter)	rs397515430	0.00001
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter)	rs267607228
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)	rs606231159
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs)	rs797044471
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs)	rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter)	rs1382026467
NM_001042545.2(LTBP4):c.701del (p.Pro234fs)	rs606231160
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly)	rs267607229

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