ClinVar Miner

List of variants in gene CTDP1 studied for Congenital cataracts-facial dysmorphism-neuropathy syndrome

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Total variants: 7
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NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554

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