ClinVar Miner

List of variants reported as pathogenic for Microphthalmia with limb anomalies by Laboratory of Medical Genetics, University of Torino

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001034852.3(SMOC1):c.378+1G>T	rs751356341
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)	rs1566709754
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)	rs1365818420

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