ClinVar Miner

List of variants reported as pathogenic for Duchenne muscular dystrophy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.31762447_31872385del
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1708del (p.Leu570fs) rs2149137188
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797

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