ClinVar Miner

List of variants in gene DMD reported as pathogenic for not specified

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp21.1(chrX:31626209-32025858)
GRCh37/hg19 Xp21.1(chrX:31658783-31904252)
GRCh37/hg19 Xp21.1(chrX:31695496-31889320)
GRCh37/hg19 Xp21.1(chrX:31757066-32131812)
GRCh37/hg19 Xp21.1(chrX:31760632-31864900)
GRCh37/hg19 Xp21.1(chrX:31814056-31970799)
GRCh37/hg19 Xp21.1(chrX:32284109-32353231)
GRCh37/hg19 Xp21.1(chrX:32684174-32719596)
GRCh37/hg19 Xp21.1(chrX:32867688-32934863)
NM_004006.3(DMD):c.1481del (p.Lys494fs) rs1556853022
NM_004006.3(DMD):c.1704+1G>A rs794727123
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter) rs1556780711
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter) rs1557383761
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.4060del (p.Leu1354fs) rs1557357445
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter) rs398123948
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.3(DMD):c.4845+2T>G rs1557315881
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter) rs777864641
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6614+2T>C rs1060502641
NM_004006.3(DMD):c.686T>G (p.Leu229Ter) rs1556930769
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter) rs1556790316
NM_004006.3(DMD):c.8391-2A>G rs1556665303
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter) rs1556656298
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.9180del (p.Trp3061fs) rs1569526156

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