ClinVar Miner

List of variants in gene BFSP2 reported as benign for cataract 12 multiple types

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003571.4(BFSP2):c.572+160A>G rs7644197 0.93297
NM_003571.4(BFSP2):c.1244+44A>G rs7628499 0.61687
NM_003571.4(BFSP2):c.603= (p.Ala201=) rs2276737 0.54090
NM_003571.4(BFSP2):c.603G>A (p.Ala201=) rs2276737 0.45910
NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp) rs79087781 0.04138
NM_003571.4(BFSP2):c.369C>T (p.His123=) rs34163197 0.01054
NM_003571.4(BFSP2):c.162C>T (p.Pro54=) rs112142146 0.01053
NM_003571.4(BFSP2):c.75G>A (p.Ala25=) rs146992682 0.00111
NM_003571.4(BFSP2):c.366G>A (p.Val122=) rs139476224 0.00079
NM_003571.4(BFSP2):c.246T>C (p.Ser82=) rs145934653 0.00067
NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys) rs145444931 0.00041
NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu) rs185816798 0.00031
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_003571.4(BFSP2):c.720C>T (p.Asn240=) rs376911067 0.00019
NM_003571.4(BFSP2):c.*73C>T rs537979573 0.00014
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) rs199755934 0.00011
NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys) rs144399466 0.00005
NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln) rs80176276 0.00004
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro) rs200208769 0.00001
NM_003571.4(BFSP2):c.285C>T (p.Thr95=) rs748115575 0.00001
NM_003571.4(BFSP2):c.730-7T>C rs75746794 0.00001

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