ClinVar Miner

List of variants reported as likely pathogenic for Congenital ocular coloboma by Genetics Department, University Hospital of Toulouse

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)	rs2091987023
NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)	rs2091986259
NM_006744.4(RBP4):c.358G>C (p.Asp120His)

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