ClinVar Miner

List of variants in gene SELENON reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_020451.3(SELENON):c.1638C>T (p.Ile546=) rs201066183 0.00017
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp) rs373530866 0.00015
NM_020451.3(SELENON):c.1191G>T (p.Gln397His) rs1311923186 0.00006
NM_020451.3(SELENON):c.465G>A (p.Thr155=) rs753774853 0.00006
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) rs202167521 0.00003
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 0.00002
NM_020451.3(SELENON):c.1318G>A (p.Ala440Thr) rs779899932 0.00001
NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr) rs777864718
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1549G>A (p.Glu517Lys)
NM_020451.3(SELENON):c.992T>C (p.Leu331Pro) rs1572233653

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