ClinVar Miner

List of variants in gene SLC2A1 reported as pathogenic by Mendelics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs) rs2124446490
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs) rs2124446305
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs) rs2124445661
NM_006516.4(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.4(SLC2A1):c.29del (p.Gly10fs) rs2124461926
NM_006516.4(SLC2A1):c.37dup (p.Met13fs) rs2124461913
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val) rs2124449452
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.4(SLC2A1):c.635del (p.Arg212fs) rs2124449287
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254

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