List of variants studied for Congenital cataracts-facial dysmorphism-neuropathy syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004715.5(CTDP1):c.492+7C>T	rs115851227	0.01593
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=)	rs145726709	0.00262
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)	rs149090172	0.00104
NM_004715.5(CTDP1):c.220G>C (p.Val74Leu)	rs936183704	0.00001
NM_004715.5(CTDP1):c.2726C>T (p.Ala909Val)	rs763209974

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