ClinVar Miner

List of variants in gene DMD reported as likely pathogenic by Mendelics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.196A>T (p.Lys66Ter) rs1603447072
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.2529del (p.Glu843fs) rs1603634743
NM_004006.3(DMD):c.2694dup (p.Glu899fs) rs1603634609
NM_004006.3(DMD):c.2803+5G>C rs1603634603
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del) rs1569528101
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter) rs1603628479
NM_004006.3(DMD):c.7309+1G>C rs398124044
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu) rs1602454639
NM_004006.3(DMD):c.9971dup (p.Arg3325fs) rs1602454605

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