ClinVar Miner

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

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp) rs770516401 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
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.177del (p.Gln60fs) rs1057518834
NM_004006.3(DMD):c.2200T>C (p.Trp734Arg) rs794727204
NM_004006.3(DMD):c.2451G>C (p.Gln817His) rs1468177610
NM_004006.3(DMD):c.357+1G>A rs1557058294
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.5203C>A (p.Arg1735Ser) rs147904018
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.649+26G>T rs2077186133
NM_004006.3(DMD):c.7319dup (p.Thr2441fs) rs1556880327
NM_004006.3(DMD):c.93+1G>C rs886042604
NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer) rs2041040360

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