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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)	rs149090172	0.00104
NM_004715.5(CTDP1):c.668C>T (p.Thr223Met)	rs149796311	0.00040
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)	rs758618193	0.00006
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)	rs758608221	0.00005
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)	rs201529748	0.00004
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met)	rs143464787	0.00002
NM_004715.5(CTDP1):c.220G>C (p.Val74Leu)	rs936183704	0.00001
NM_004715.5(CTDP1):c.773-9T>G	rs749371676	0.00001
NC_000013.11:g.76901331_76901334del
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)	rs79944224
NM_004715.5(CTDP1):c.2726C>T (p.Ala909Val)	rs763209974

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