ClinVar Miner

List of variants reported as uncertain significance for Congenital cataracts-facial dysmorphism-neuropathy syndrome by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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

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