ClinVar Miner

List of variants studied for Microphthalmia with limb anomalies

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Total variants: 19
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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.567G>A (p.Pro189=) rs142590267 0.00290
NM_001034852.3(SMOC1):c.584-2A>G rs772178551 0.00004
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter) rs370866589 0.00003
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr) rs1326644602
NM_001034852.3(SMOC1):c.126G>A (p.Gln42=) rs3742909
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.812G>A (p.Cys271Tyr) rs1566709825
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His) rs1365818420
NM_001034852.3(SMOC1):c.858-27del rs139924326

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