ClinVar Miner

List of variants in gene FMR1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_002024.6(FMR1):c.1737+8C>A rs73606790 0.02792
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_002024.6(FMR1):c.375T>C (p.Thr125=) rs143611778 0.00053
NM_002024.6(FMR1):c.714T>C (p.Gly238=) rs200138498 0.00005
NM_002024.6(FMR1):c.225G>A (p.Glu75=) rs1300382870 0.00002
NM_002024.6(FMR1):c.522T>A (p.Asn174Lys) rs782265090

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