ClinVar Miner

List of variants studied for Microphthalmia with limb anomalies by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001034852.3(SMOC1):c.858-26C>T rs116375526 0.26100
NM_001034852.3(SMOC1):c.858-19C>A rs57609901 0.15288
NM_001034852.3(SMOC1):c.857+32C>T rs34311408 0.15221
NM_001034852.3(SMOC1):c.702C>T (p.Ala234=) rs3825739 0.15211
NM_001034852.3(SMOC1):c.126G>A (p.Gln42=) rs3742909
NM_001034852.3(SMOC1):c.858-27del rs139924326

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