ClinVar Miner

List of variants reported as uncertain significance for cataract 17 multiple types

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr) rs139107757 0.00042
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_001887.4(CRYBB1):c.-7G>A rs200292741 0.00021
NM_001887.4(CRYBB1):c.394C>T (p.Arg132Cys) rs148083686 0.00019
NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu) rs777977625 0.00011
NM_001887.4(CRYBB1):c.282C>T (p.Ile94=) rs372418411 0.00008
NM_001887.4(CRYBB1):c.-6G>A rs200241940 0.00006
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) rs200002097 0.00006
NM_001887.4(CRYBB1):c.*67C>G rs144489412 0.00004
NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys) rs374800624 0.00002
NM_001887.4(CRYBB1):c.357C>T (p.Gly119=) rs763685652 0.00002
NM_001887.4(CRYBB1):c.294G>A (p.Ala98=) rs760235124 0.00001
NM_001887.4(CRYBB1):c.358G>A (p.Glu120Lys) rs762762177 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu) rs886057326 0.00001
NM_001887.4(CRYBB1):c.576-3C>A rs142497666 0.00001
NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser) rs762942964 0.00001
NC_000022.10:g.(?_26995454)_(26995657_?)del
NM_001887.4(CRYBB1):c.-58C>T rs886057327
NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr) rs1929353737
NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter) rs762814574
NM_001887.4(CRYBB1):c.234G>T (p.Gly78=) rs1569206910
NM_001887.4(CRYBB1):c.275G>A (p.Arg92His) rs750427170
NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu) rs144372140
NM_001887.4(CRYBB1):c.300-9T>G rs1929039318
NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)
NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)
NM_001887.4(CRYBB1):c.37G>A (p.Val13Met) rs747901309
NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly) rs148083686
NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu) rs764907340
NM_001887.4(CRYBB1):c.432+5G>C rs1555940959
NM_001887.4(CRYBB1):c.508G>C (p.Asp170His)
NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)
NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)
NM_001887.4(CRYBB1):c.63C>A (p.Thr21=) rs1371584623
NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)
NM_001887.4(CRYBB1):c.697C>T (p.Arg233Cys)
NM_001887.4(CRYBB1):c.712dup (p.His238fs) rs1602319108
NM_001887.4(CRYBB1):c.753dup (p.Lys252fs)
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg) rs1114167432

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