ClinVar Miner

List of variants reported as pathogenic for Cataract 33 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001195.5(BFSP1):c.1042+3A>G	rs1085307127
NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)	rs1085307126
NM_001195.5(BFSP1):c.736-1384_957-66del

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