List of variants reported as pathogenic for congenital limb malformation by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_032634.4(PIGO):c.163C>T (p.Gln55Ter)	rs1829625950	0.00001
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)	rs104894312
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)	rs121434226

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