ClinVar Miner

List of variants in gene BFSP1 reported as benign for Cataract 33

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001195.5(BFSP1):c.957-83T>C rs6044850 0.51777
NM_001195.5(BFSP1):c.735+121G>T rs1016211 0.46631
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=) rs6136118 0.27904
NM_001195.5(BFSP1):c.1926C>T (p.Thr642=) rs6080717 0.25931
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser) rs6080719 0.21344
NM_001195.5(BFSP1):c.804C>T (p.Asn268=) rs11537702 0.05390
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu) rs16999317 0.01390
NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp) rs139124891 0.01147
NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln) rs200899362 0.01003
NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala) rs143850362 0.00917
NM_001195.5(BFSP1):c.736-16G>A rs76806936 0.00427
NM_001195.5(BFSP1):c.887C>T (p.Ala296Val) rs142996076 0.00285
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) rs548358901 0.00264
NM_001195.5(BFSP1):c.762A>G (p.Lys254=) rs35042144 0.00204
NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser) rs150798461 0.00149
NM_001195.5(BFSP1):c.675G>A (p.Leu225=) rs140834233 0.00064
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe) rs886038419
NM_001195.5(BFSP1):c.1332A>G (p.Leu444=) rs147241220
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.1749A>T (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.535-42G>A rs1559956

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