List of variants in gene CTDP1 reported as benign for Congenital cataracts-facial dysmorphism-neuropathy syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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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.181T>G (p.Ser61Ala)	rs17855830	0.63679
NM_004715.5(CTDP1):c.978G>A (p.Thr326=)	rs599554	0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)	rs2126082	0.18278
NM_004715.5(CTDP1):c.492+7C>T	rs115851227	0.01593
NM_004715.5(CTDP1):c.2418-207_2418-165dup	rs147933855

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