ClinVar Miner

List of variants studied for Qualitative or quantitative defects of dystrophin by Illumina Laboratory Services, Illumina

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.5883C>A (p.Ser1961Arg) rs1217612438 0.00001
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.3949G>T (p.Glu1317Ter) rs2524074403
NM_004006.3(DMD):c.5521G>T (p.Glu1841Ter) rs2097762588
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter) rs398124072
NM_004006.3(DMD):c.9225-647A>G rs398124091
NM_004006.3(DMD):c.9649+1G>A rs1556256329

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