ClinVar Miner

List of variants in gene GCNT2 reported as uncertain significance for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys) rs200427106 0.00004
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) rs770940749 0.00001
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) rs786205577 0.00001
NM_145649.5(GCNT2):c.558T>G (p.Tyr186Ter) rs754060575 0.00001
NM_001491.3(GCNT2):c.259_262del (p.Ser87fs) rs1085307067
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val) rs1554129925
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg) rs771422892
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr) rs1554139314
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)

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