ClinVar Miner

List of variants reported as pathogenic for cataract 17 multiple types

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg) rs1114167433
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs) rs1569203234
NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter) rs74315488
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg) rs1114167432

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