ClinVar Miner

List of variants in gene DMD reported as pathogenic by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter) rs863224983
NM_004006.3(DMD):c.2168+1G>A rs1057518207
NM_004006.3(DMD):c.3603+2dup rs796523999
NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter) rs1569562933
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter) rs128627257
NM_004006.3(DMD):c.6438+1G>A
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter) rs1603445344
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.3(DMD):c.811C>T (p.Gln271Ter) rs2063890662
NM_004006.3(DMD):c.9361+1G>A rs398124094

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