ClinVar Miner

List of variants reported as pathogenic for Alpha-B crystallinopathy by OMIM

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Total variants: 5
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NM_001289808.2(CRYAB):c.325G>C (p.Asp109His) rs387907339
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter) rs104894202
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) rs1566402514
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141

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