ClinVar Miner

List of variants in gene DMD reported as pathogenic for Dystrophin deficiency

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer) rs398123962
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.8390+2T>C rs863225013
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter) rs1556656851
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853

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