ClinVar Miner

List of variants reported as benign for cataract 13 with adult I phenotype

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_001491.3(GCNT2):c.216C>T (p.Cys72=) rs2230906 0.10090
NM_001491.3(GCNT2):c.330G>A (p.Arg110=) rs35537333 0.01705
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=) rs35318346 0.00670
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser) rs75648279 0.00632
NM_145649.5(GCNT2):c.926-34857G>A rs56106312 0.00419
NM_001491.3(GCNT2):c.630T>G (p.Gly210=) rs148372193 0.00167
NM_001491.3(GCNT2):c.741G>A (p.Ala247=) rs200874437 0.00009
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly) rs560637463 0.00003

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