ClinVar Miner

List of variants in gene CRYBB2 reported as uncertain significance for cataract 3 multiple types

Included ClinVar conditions (1):
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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) rs143080187 0.00094
NM_000496.3(CRYBB2):c.242G>A (p.Arg81His) rs146763276 0.00010
NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser) rs770592991 0.00006
NM_000496.3(CRYBB2):c.304G>A (p.Val102Met) rs769620041 0.00006
NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser) rs539443672 0.00001
NM_000496.3(CRYBB2):c.112T>C (p.Cys38Arg)
NM_000496.3(CRYBB2):c.152C>T (p.Ser51Phe)
NM_000496.3(CRYBB2):c.173+1G>T rs770540384
NM_000496.3(CRYBB2):c.174-12T>A
NM_000496.3(CRYBB2):c.24G>C (p.Gln8His) rs1935318753
NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu) rs1935450863
NM_000496.3(CRYBB2):c.292_293delinsCC (p.Arg98Pro)
NM_000496.3(CRYBB2):c.325A>T (p.Ile109Phe)
NM_000496.3(CRYBB2):c.359AGA[1] (p.Lys121del)
NM_000496.3(CRYBB2):c.384T>G (p.Asp128Glu) rs1395903116
NM_000496.3(CRYBB2):c.389C>G (p.Pro130Arg)
NM_000496.3(CRYBB2):c.431T>A (p.Val144Glu) rs2146093751
NM_000496.3(CRYBB2):c.434G>C (p.Arg145Pro)
NM_000496.3(CRYBB2):c.449+6T>A
NM_000496.3(CRYBB2):c.479G>C (p.Arg160Pro)
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg) rs1569022638
NM_000496.3(CRYBB2):c.565_572delinsTGCATCCA (p.Arg189_Arg191delinsCysIleHis) rs2146095462
NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val) rs1935386462

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