List of variants reported as pathogenic for cataract 33

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)	rs1246080692	0.00001
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
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)

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