ClinVar Miner

List of variants reported for Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) rs200665923 0.00034
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu) rs369221693 0.00004
NM_001042545.2(LTBP4):c.2557+10C>T rs547405457 0.00003
NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) rs2081414000

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