List of variants reported as uncertain significance for Congenital cataracts-facial dysmorphism-neuropathy syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)	rs149090172	0.00103
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)	rs758618193	0.00006
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met)	rs143464787	0.00002
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004715.5(CTDP1):c.773-9T>G

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