ClinVar Miner

List of variants studied for Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001551.3(IGBP1):c.797C>T (p.Thr266Met) rs781617904 0.00002
NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile) rs2085083881 0.00001
NM_001551.3(IGBP1):c.-57_-55delinsAA rs2147562704
NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala) rs2085079076
NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys) rs2085295702

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