List of variants reported as pathogenic for Microphthalmia with limb anomalies

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001034852.3(SMOC1):c.367T>C (p.Ser123Pro)	rs1114167455
NM_001034852.3(SMOC1):c.378+1G>A	rs751356341
NM_001034852.3(SMOC1):c.378+1G>T	rs751356341
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter)	rs1344296865
NM_001034852.3(SMOC1):c.664+1G>A	rs863223317
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)	rs1566709754
NM_001034852.3(SMOC1):c.718C>T (p.Gln240Ter)	rs376672665
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)	rs1365818420

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