ClinVar Miner

List of variants in gene DMD reported as pathogenic for Cardiovascular phenotype

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Total variants: 17
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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.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter) rs1064793964
NM_004006.3(DMD):c.31+1G>C rs398123923
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.313A>T (p.Lys105Ter) rs2148850223
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter) rs1569563751
NM_004006.3(DMD):c.357+1G>T
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter) rs1057520764
NM_004006.3(DMD):c.6306del (p.Val2103fs)
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter) rs1557038061
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004006.3(DMD):c.777del (p.Lys259_Val260insTer)
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter) rs2147076500
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432

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