ClinVar Miner

List of variants in gene MAGEL2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser) rs555920534 0.00063
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu) rs372352945 0.00019
NM_019066.5(MAGEL2):c.680C>T (p.Thr227Ile) rs761097102 0.00014
NM_019066.5(MAGEL2):c.2989G>A (p.Ala997Thr) rs558186319
NM_019066.5(MAGEL2):c.37_38insAC (p.Pro13fs) rs1250752332
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_019066.5(MAGEL2):c.81G>C (p.Thr27=) rs1055791590

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