ClinVar Miner

List of variants in gene DMD reported as likely pathogenic for Becker muscular dystrophy

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg) rs371601285 0.00002
GRCh37/hg19 Xp21.1(chrX:31950355-32305635)
NM_004006.3(DMD):c.10232del (p.Thr3411fs)
NM_004006.3(DMD):c.10234del (p.Thr3411_Leu3412insTer)
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.11046+2T>C
NM_004006.3(DMD):c.1704+2T>C
NM_004006.3(DMD):c.1705-2A>G rs1601809011
NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3276+2T>C
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.4519-5C>G rs2147560185
NM_004006.3(DMD):c.531-10T>A rs747522183
NM_004006.3(DMD):c.5448+1G>A rs1064796764
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
NM_004006.3(DMD):c.6291-13537A>G
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.71G>A (p.Trp24Ter) rs2147755143
NM_004006.3(DMD):c.832-2A>G
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004006.3(DMD):c.960+1G>A
NM_004006.3(DMD):c.9685del (p.Cys3229fs)
NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del
NM_004006.3:c.7099-17240_7125del

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