ClinVar Miner

List of variants in gene SELENON reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) rs1553120691
NM_020451.3(SELENON):c.1359G>C (p.Trp453Cys) rs1057517819
NM_020451.3(SELENON):c.1574T>A (p.Met525Lys) rs761631813
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.855C>G (p.Tyr285Ter) rs1553120110

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