List of variants in gene SMOC1 reported as pathogenic for Microphthalmia with limb anomalies

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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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

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