ClinVar Miner

List of variants in gene DMD reported as pathogenic for Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.8391-1_8391delinsAA rs1060502619
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
Single allele

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