ClinVar Miner

List of variants studied for Microphthalmia with limb anomalies by Laboratory of Medical Genetics, University of Torino

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr) rs1326644602
NM_001034852.3(SMOC1):c.378+1G>T rs751356341
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter) rs1566709754
NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr) rs1566709825
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His) rs1365818420

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