ClinVar Miner

List of variants in gene DMD reported as pathogenic for not specified

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_004006.2(DMD):c.1481del (p.Lys494fs) rs1556853022
NM_004006.2(DMD):c.1704+1G>A rs794727123
NM_004006.2(DMD):c.2101G>T (p.Glu701Ter) rs1556780711
NM_004006.2(DMD):c.2416G>T (p.Glu806Ter) rs1557383761
NM_004006.2(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.2(DMD):c.4060del (p.Leu1354fs) rs1557357445
NM_004006.2(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.2(DMD):c.4845+2T>G rs1557315881
NM_004006.2(DMD):c.5350G>T (p.Glu1784Ter) rs777864641
NM_004006.2(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.2(DMD):c.6614+2T>C rs1060502641
NM_004006.2(DMD):c.7899G>A (p.Trp2633Ter) rs1556790316
NM_004006.2(DMD):c.8391-2A>G rs1556665303
NM_004006.2(DMD):c.8782A>T (p.Lys2928Ter) rs1556656298
NM_004006.2(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184

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