ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
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 0.00103
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.2418-207_2418-165dup rs147933855
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004715.5(CTDP1):c.773-9T>G
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307

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