ClinVar Miner

List of variants in gene SELENON reported as uncertain significance by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys) rs200958015 0.00054
NM_020451.3(SELENON):c.1428G>A (p.Ser476=) rs41284305 0.00029
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_020451.3(SELENON):c.1603-14G>A rs370300935 0.00022
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_020451.3(SELENON):c.81C>T (p.Arg27=) rs886038660 0.00014
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu) rs766798515 0.00009
NM_020451.3(SELENON):c.402G>A (p.Leu134=) rs759256016 0.00008
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys) rs374512346 0.00008
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val) rs749237378 0.00006
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) rs747408056 0.00002
NM_020451.3(SELENON):c.1112G>T (p.Gly371Val) rs745886248 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del) rs770747626
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) rs200431320
NM_020451.3(SELENON):c.538G>T (p.Val180Phe) rs751053087
NM_020451.3(SELENON):c.680A>G (p.Glu227Gly) rs1085307758
NM_020451.3(SELENON):c.711C>A (p.Asn237Lys)
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) rs374195814

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