ClinVar Miner

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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr)	rs1326644602
NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr)	rs1566709825

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