ClinVar Miner

List of variants in gene DMD studied for Becker muscular dystrophy

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.7096= (p.Lys2366=) rs1800275 0.78847
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 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
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys) rs778354538 0.00001
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) rs1295935628 0.00001
NM_004006.3(DMD):c.703C>A (p.Leu235Ile) rs200177107 0.00001
GRCh37/hg19 Xp21.1(chrX:31697440-32053731)x0
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
GRCh37/hg19 Xp21.1(chrX:31893253-32053731)x1
GRCh37/hg19 Xp21.1(chrX:31947661-32053731)x0
GRCh37/hg19 Xp21.1(chrX:31950355-32305635)
GRCh37/hg19 Xp21.1(chrX:32429817-32867988)x1
GRCh37/hg19 Xp21.1(chrX:32456306-32536299)x1
GRCh37/hg19 Xp21.1(chrX:32632368-32867988)x1
Multiple alleles
NC_000023.11:g.32390170_32390182del rs2147621477
NC_000023.11:g.32565874_32565883dup rs2149095626
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10223+4A>G rs2148290215
NM_004006.3(DMD):c.10223+5G>C rs2148290176
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
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.10349G>T (p.Ser3450Ile) rs2040083096
NM_004006.3(DMD):c.10477del (p.Gln3493fs) rs2148183751
NM_004006.3(DMD):c.10677dup (p.Ala3560fs) rs2147934458
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile) rs1555996685
NM_004006.3(DMD):c.10921+2T>C rs2147921052
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1098dup (p.Glu367fs) rs2146833198
NM_004006.3(DMD):c.11046+2T>C
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter) rs1556875224
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter) rs1234153462
NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs) rs796065325
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter) rs763936813
NM_004006.3(DMD):c.1602+2T>A rs2149264374
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn) rs1556834513
NM_004006.3(DMD):c.1603-1G>T
NM_004006.3(DMD):c.1704+1G>T rs794727123
NM_004006.3(DMD):c.1704+2T>C
NM_004006.3(DMD):c.1705-2A>G rs1601809011
NM_004006.3(DMD):c.170T>C (p.Leu57Pro) rs886044431
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter) rs2149095319
NM_004006.3(DMD):c.1941dup (p.Ala648fs) rs2149094788
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter) rs1603636537
NM_004006.3(DMD):c.208A>T (p.Arg70Ter) rs2080510348
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs) rs2148804513
NM_004006.3(DMD):c.2293-2_2294del rs2148691727
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter) rs2148691516
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter) rs763844939
NM_004006.3(DMD):c.2366A>G (p.Glu789Gly)
NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)
NM_004006.3(DMD):c.2380+3A>C rs1569564916
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2499del (p.Ile833fs) rs2148631657
NM_004006.3(DMD):c.261_264+3del rs2148984206
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter) rs1557380616
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter) rs2148485357
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter) rs767387334
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3162+1G>A rs1335666832
NM_004006.3(DMD):c.3257dup (p.Gln1087fs) rs1569563740
NM_004006.3(DMD):c.3276+2T>C
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.3(DMD):c.3327T>A (p.Asn1109Lys)
NM_004006.3(DMD):c.336_337delinsTT (p.Trp112_Asn113delinsCysTyr)
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter) rs886044406
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter) rs2148348451
NM_004006.3(DMD):c.3574G>A (p.Glu1192Lys)
NM_004006.3(DMD):c.3603+2dup rs796523999
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter) rs267606771
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.394C>T (p.Gln132Ter) rs2148807584
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs) rs2148194212
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter) rs745640786
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs) rs2148193225
NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys) rs1557340452
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter) rs2147935387
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter) rs1603632322
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs) rs2147613101
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter) rs398123954
NM_004006.3(DMD):c.4519-2_4523del
NM_004006.3(DMD):c.4519-5C>G rs2147560185
NM_004006.3(DMD):c.4632_4633del (p.Arg1544fs)
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter) rs2147472174
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter) rs2147470742
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs) rs1569560475
NM_004006.3(DMD):c.4845+2T>C rs1557315881
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs) rs2147261153
NM_004006.3(DMD):c.494A>T (p.Asp165Val) rs1557052542
NM_004006.3(DMD):c.503C>A (p.Ala168Asp) rs128626236
NM_004006.3(DMD):c.5068_5070del (p.His1690del) rs761764494
NM_004006.3(DMD):c.5078del (p.Lys1693fs) rs2147253701
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.3(DMD):c.5131del (p.Gln1711fs) rs2147252708
NM_004006.3(DMD):c.531-10T>A rs747522183
NM_004006.3(DMD):c.531-2A>C rs398123985
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.5448+1G>A rs1064796764
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs) rs2147031776
NM_004006.3(DMD):c.5632C>T (p.Gln1878Ter) rs2146992010
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.5740-1G>T rs2148813707
NM_004006.3(DMD):c.574_577del (p.Ala192fs) rs2148751467
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) rs794727666
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter) rs398124002
NM_004006.3(DMD):c.607G>C (p.Ala203Pro)
NM_004006.3(DMD):c.6117+1G>T
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter) rs2148456401
NM_004006.3(DMD):c.6290+3076A>G
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
NM_004006.3(DMD):c.6291-13537A>G
NM_004006.3(DMD):c.630del (p.Lys211fs) rs1557047827
NM_004006.3(DMD):c.633dup (p.Leu212fs) rs2148750700
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs) rs2150188102
NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter) rs2150187643
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter) rs1557010214
NM_004006.3(DMD):c.689T>G (p.Met230Arg)
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn) rs128626237
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter) rs781054741
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter) rs2149680248
NM_004006.3(DMD):c.709C>T (p.Gln237Ter) rs2147605826
NM_004006.3(DMD):c.71G>A (p.Trp24Ter) rs2147755143
NM_004006.3(DMD):c.7309+4del rs2149424269
NM_004006.3(DMD):c.7310-1G>A rs1556880354
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs) rs2147605245
NM_004006.3(DMD):c.7660+1G>C rs1556852444
NM_004006.3(DMD):c.7661-2A>C rs1556806356
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter) rs2148733515
NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter) rs2148732436
NM_004006.3(DMD):c.8028-1G>A rs2148423696
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) rs2148421809
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs) rs2147176325
NM_004006.3(DMD):c.832-2A>G
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter) rs2147075923
NM_004006.3(DMD):c.8548-1G>C rs1569546198
NM_004006.3(DMD):c.8668+1G>A rs2149256957
NM_004006.3(DMD):c.8800G>C (p.Glu2934Gln)
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter) rs2148492200
NM_004006.3(DMD):c.9163+2510G>A
NM_004006.3(DMD):c.9164-1G>T rs398124082
NM_004006.3(DMD):c.917A>C (p.Tyr306Ser) rs2147581077
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs) rs2148296981
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter) rs2147649257
NM_004006.3(DMD):c.9281_9286+2del rs2147648412
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs) rs2147648529
NM_004006.3(DMD):c.9287-1G>A rs2147071925
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004006.3(DMD):c.9362-1G>C rs2148593122
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter) rs2148591514
NM_004006.3(DMD):c.9564-30A>G
NM_004006.3(DMD):c.960+1G>A
NM_004006.3(DMD):c.961-5831C>T rs398124099
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs) rs2148564018
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs) rs2148563899
NM_004006.3(DMD):c.9685del (p.Cys3229fs)
NM_004006.3(DMD):c.9767del (p.Gly3256fs) rs398124103
NM_004006.3(DMD):c.9808-2A>G rs1602456486
NM_004006.3(DMD):c.9853dup (p.Met3285fs) rs2148335170
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs) rs398124105
NM_004006.3(DMD):c.9860_9897del (p.Leu3287fs)
NM_004006.3(DMD):c.9906del (p.Ala3303fs) rs2148334397
NM_004006.3(DMD):c.9946_9947delinsAT (p.Cys3316Ile)
NM_004006.3(DMD):c.9973A>G (p.Arg3325Gly)
NM_004006.3(DMD):c.9974+2T>C rs2148333619
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del
NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del
NM_004006.3:c.7099-17240_7125del
Single allele

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