ClinVar Miner

List of variants in gene EPB41L1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_012156.2(EPB41L1):c.1338T>C (p.His446=) rs2295568 0.09605
NM_012156.2(EPB41L1):c.1869G>A (p.Thr623=) rs73905303 0.01705
NM_012156.2(EPB41L1):c.2060C>T (p.Pro687Leu) rs73101499 0.01629
NM_012156.2(EPB41L1):c.555A>G (p.Glu185=) rs116334224 0.01482
NM_012156.2(EPB41L1):c.873+7C>G rs111572179 0.01182
NM_012156.2(EPB41L1):c.1197C>T (p.Thr399=) rs115743976 0.00444
NM_012156.2(EPB41L1):c.1451C>T (p.Pro484Leu) rs147654123 0.00208
NM_012156.2(EPB41L1):c.2332A>G (p.Thr778Ala) rs199993775 0.00137
NM_012156.2(EPB41L1):c.1934G>A (p.Arg645Gln) rs78442416 0.00048
NM_012156.2(EPB41L1):c.990G>A (p.Lys330=) rs191582038 0.00022
NM_012156.2(EPB41L1):c.1626C>T (p.Pro542=) rs112471399 0.00012
NM_012156.2(EPB41L1):c.343-6C>T rs369397623 0.00007
NM_012156.2(EPB41L1):c.1661C>A (p.Ala554Asp) rs778642222 0.00004
NM_012156.2(EPB41L1):c.1180C>T (p.Arg394Trp) rs756672064 0.00002
NM_012156.2(EPB41L1):c.1286G>A (p.Arg429His) rs761212463 0.00001
NM_012156.2(EPB41L1):c.1606C>T (p.Arg536Cys) rs757708154 0.00001
NM_012156.2(EPB41L1):c.1781T>C (p.Leu594Pro) rs558063607 0.00001
NM_012156.2(EPB41L1):c.224C>T (p.Ser75Leu) rs543552366 0.00001
NM_012156.2(EPB41L1):c.319T>G (p.Ser107Ala) rs375649709 0.00001

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