ClinVar Miner

List of variants in gene DMD reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10086+1G>A rs398123828
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer) rs886043676
NM_004006.3(DMD):c.10210dup (p.Asp3404fs) rs2040821014
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter) rs1057518962
NM_004006.3(DMD):c.4345-3C>G rs2097987224
NM_004006.3(DMD):c.4375del (p.Arg1459fs) rs2097987064
NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter) rs1557315928
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter) rs1057518866
NM_004006.3(DMD):c.93+1G>C rs886042604

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