ClinVar Miner

List of variants reported as benign for Congenital cataracts-facial dysmorphism-neuropathy syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)	rs626169	0.90284
NM_004715.5(CTDP1):c.978G>A (p.Thr326=)	rs599554	0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)	rs2126082	0.18278

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