ClinVar Miner

List of variants in gene DMD reported by OMIM

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
DMD, EX45-47DEL
DMD, PROMOTER DEL
NC_000023.11:g(32501843_32518007)_(32518132_32545158)del
NC_000023.11:g.(32472310_32484918)_(32485100_32491276)del
NC_000023.11:g.(33020201_33211281)_(33211556_?)del
NG_012232.1:g.702849_702850insinsY13186.2:g.2333_2491
NM_004006.3(DMD):c.10019G>A (p.Cys3340Tyr) rs104894788
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10223+1G>A rs398123834
NM_004006.3(DMD):c.10223+5G>T rs2148290176
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.10477del (p.Gln3493fs) rs2148183751
NM_004006.3(DMD):c.10484_10491delinsG (p.Leu3495fs) rs2148183552
NM_004006.3(DMD):c.1346dup (p.Leu449fs) rs2149350391
NM_004006.3(DMD):c.1438G>T (p.Gly480Ter) rs128626240
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter) rs128626241
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn) rs1556834513
NM_004006.3(DMD):c.161T>G (p.Leu54Arg) rs128626231
NM_004006.3(DMD):c.174_175del (p.Gly59fs) rs2149014816
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.1952G>A (p.Trp651Ter) rs128626242
NM_004006.3(DMD):c.198dup (p.Gly67fs) rs2148984775
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter) rs128626232
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter) rs201366610
NM_004006.3(DMD):c.2308A>T (p.Lys770Ter) rs128626243
NM_004006.3(DMD):c.2314G>T (p.Glu772Ter) rs267606770
NM_004006.3(DMD):c.2317A>G (p.Lys773Glu) rs128626244
NM_004006.3(DMD):c.2327_2378del (p.Lys776fs) rs2148690745
NM_004006.3(DMD):c.2359del (p.Leu787fs) rs2148690952
NM_004006.3(DMD):c.2380+3A>C rs1569564916
NM_004006.3(DMD):c.253C>T (p.Gln85Ter) rs128626234
NM_004006.3(DMD):c.2719_2720insA (p.Leu907fs) rs2148583439
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter) rs128625227
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter) rs128626245
NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter) rs128626246
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.3469G>T (p.Glu1157Ter) rs128625226
NM_004006.3(DMD):c.3603+2T>G rs146071084
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter) rs267606771
NM_004006.3(DMD):c.377del (p.Asn126fs) rs1569528138
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter) rs128626247
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.3(DMD):c.503C>A (p.Ala168Asp) rs128626236
NM_004006.3(DMD):c.516del (p.Ile173fs) rs2148805979
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter) rs128625228
NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter) rs128627257
NM_004006.3(DMD):c.6200del (p.Thr2067fs) rs2148457196
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.3(DMD):c.6351_6366del (p.Asn2117fs) rs2147865582
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter) rs128626251
NM_004006.3(DMD):c.6776_6792del (p.Glu2259fs) rs2149990101
NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter) rs128626252
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn) rs128626237
NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter) rs128625230
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) rs398124040
NM_004006.3(DMD):c.7077_7078delinsT (p.Gln2359fs) rs2149679748
NM_004006.3(DMD):c.7098+1G>A rs1556962223
NM_004006.3(DMD):c.724C>T (p.Gln242Ter) rs128626238
NM_004006.3(DMD):c.7402G>T (p.Glu2468Ter) rs128626253
NM_004006.3(DMD):c.748G>T (p.Glu250Ter) rs128626239
NM_004006.3(DMD):c.783_793del (p.Lys262fs) rs2147604021
NM_004006.3(DMD):c.835A>G (p.Thr279Ala) rs128627255
NM_004006.3(DMD):c.8548-1G>C rs1569546198
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter) rs128626254
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.93+5590T>A rs1557211730
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs) rs886039532
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9974+2T>A rs2148333619
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3(DMD):c.[10086+1G>T;10126del]

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