List of variants in gene BFSP1 reported as likely benign for cataract 33

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001195.5(BFSP1):c.418A>G (p.Met140Val)	rs142092768	0.00275
NM_001195.5(BFSP1):c.1775C>T (p.Ala592Val)	rs145703098	0.00069
NM_001195.5(BFSP1):c.403C>T (p.Leu135Phe)	rs151173407	0.00065
NM_001195.5(BFSP1):c.183C>T (p.Leu61=)	rs545346553	0.00030
NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln)	rs148119487	0.00017
NM_001195.5(BFSP1):c.735+9G>A	rs774559581	0.00008
NM_001195.5(BFSP1):c.627+9T>G	rs776455142	0.00004
NM_001195.5(BFSP1):c.735+17C>T	rs368674829	0.00003
NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=)	rs760220303	0.00001
NM_001195.5(BFSP1):c.1884C>T (p.Ile628=)
NM_001195.5(BFSP1):c.30C>T (p.Thr10=)
NM_001195.5(BFSP1):c.366G>A (p.Glu122=)
NM_001195.5(BFSP1):c.378-16T>C	rs1600661739
NM_001195.5(BFSP1):c.384A>G (p.Glu128=)
NM_001195.5(BFSP1):c.561C>T (p.Ile187=)
NM_001195.5(BFSP1):c.628-14C>T
NM_001195.5(BFSP1):c.93C>A (p.Ala31=)
NM_001195.5(BFSP1):c.956+7G>C	rs202146533
NM_001195.5(BFSP1):c.957-3C>T

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