ClinVar Miner

List of variants reported as likely benign for cataract 30

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003380.5(VIM):c.542A>C (p.Asp181Ala) rs149942621 0.00115
NM_003380.5(VIM):c.749A>G (p.Gln250Arg) rs145152785 0.00111
NM_003380.5(VIM):c.987A>G (p.Glu329=) rs147429387 0.00026
NM_003380.5(VIM):c.384T>C (p.Asn128=) rs147857896 0.00016
NM_003380.5(VIM):c.1360-17T>G rs764183925 0.00010
NM_003380.5(VIM):c.1009-8C>A rs372984113 0.00003
NM_003380.5(VIM):c.1122G>A (p.Glu374=)
NM_003380.5(VIM):c.1360-18G>T
NM_003380.5(VIM):c.1368C>T (p.Asn456=)
NM_003380.5(VIM):c.423A>G (p.Gln141=) rs2131679660
NM_003380.5(VIM):c.563+15A>C
NM_003380.5(VIM):c.624+17C>G
NM_003380.5(VIM):c.624+7A>C rs376197279
NM_003380.5(VIM):c.624+7A>G
NM_003380.5(VIM):c.882+20G>A
NM_003380.5(VIM):c.990G>C (p.Val330=)

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