ClinVar Miner

List of variants in gene DMD reported by Baylor Genetics

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
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.1998A>G (p.Ser666=) rs1289591017 0.00001
NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys) rs1278483491 0.00001
NM_004006.3(DMD):c.5739+1G>T rs886043041 0.00001
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
GRCh37/hg19 Xp21.1(chrX:32235149-32459424)
GRCh37/hg19 Xp21.1(chrX:32466518-32928163)
GRCh37/hg19 Xp21.1(chrX:32587530-32719171)
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.10271C>T (p.Ser3424Leu) rs1339174553
NM_004006.3(DMD):c.10395-1G>A rs1602338283
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile) rs1555996685
NM_004006.3(DMD):c.10921+2T>C rs2147921052
NM_004006.3(DMD):c.11046+2T>C
NM_004006.3(DMD):c.1153T>C (p.Tyr385His) rs2059650911
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter) rs763936813
NM_004006.3(DMD):c.1603-1G>T
NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)
NM_004006.3(DMD):c.2381-2A>C rs1603634749
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter) rs2148348451
NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys) rs1557340452
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter) rs398123954
NM_004006.3(DMD):c.4632_4633del (p.Arg1544fs)
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter) rs1557303544
NM_004006.3(DMD):c.531-2A>C rs398123985
NM_004006.3(DMD):c.5448+1G>A rs1064796764
NM_004006.3(DMD):c.5652del (p.Arg1884fs) rs1057518692
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter) rs2148732436
NM_004006.3(DMD):c.832-2A>G
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.9164-1G>T rs398124082
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(DMD):c.9860_9897del (p.Leu3287fs)
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3:c.7099-17240_7125del
NM_004020.4(DMD):c.2843+6256_2843+6260dup rs1602360475
Single allele

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