ClinVar Miner

List of variants in gene DMD reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.4684del (p.Arg1562fs) rs2147473202
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter) rs398123980
NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del
NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del

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