ClinVar Miner

List of variants in gene DMD reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_004006.3(DMD):c.6614+26G>T rs3761604 0.28231
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_004006.3(DMD):c.1704+51T>C rs5927082 0.09293
NM_004006.3(DMD):c.8669-75C>G rs17338583 0.06936
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
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.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_004006.3(DMD):c.4072-389G>T rs16990318 0.01812
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_004006.3(DMD):c.4344+17A>T rs72468646 0.01496
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_004006.3(DMD):c.8668+19A>G rs148241865 0.01001
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_004006.3(DMD):c.1332-18C>T rs193153078 0.00806
NM_004006.3(DMD):c.*38G>A rs16989352 0.00785
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_004006.3(DMD):c.9225-645T>C rs73617065 0.00503
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_004006.3(DMD):c.5448+148G>T rs72468625 0.00360
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.2745A>C (p.Thr915=) rs149922633 0.00113
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004006.3(DMD):c.6290+30957A>C rs759078487 0.00061
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) rs144732570 0.00054
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.696C>G (p.Ile232Met) rs145668843 0.00023
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr) rs374993642 0.00010
NM_004006.3(DMD):c.6414T>C (p.His2138=) rs753999355 0.00010
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.6953C>T (p.Ala2318Val) rs771215006 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.2780C>T (p.Ala927Val) rs41312094 0.00003
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879 0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_004006.3(DMD):c.4684A>G (p.Arg1562Gly) rs771425504 0.00003
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr) rs772732788 0.00003
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.1536C>A (p.His512Gln) rs776446238 0.00002
NM_004006.3(DMD):c.3498A>G (p.Leu1166=) rs767446687 0.00002
NM_004006.3(DMD):c.1219A>G (p.Ile407Val) rs1463021278 0.00001
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr) rs398123940 0.00001
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp) rs1462655612 0.00001
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu) rs770845480 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.7543-19G>A rs398124048 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe) rs2041037870
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer) rs886043676
NM_004006.3(DMD):c.10258T>C (p.Ser3420Pro) rs1569418231
NM_004006.3(DMD):c.10554-28T>C
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu) rs199974153
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del) rs751391426
NM_004006.3(DMD):c.10880T>A (p.Met3627Lys)
NM_004006.3(DMD):c.1249G>T (p.Glu417Ter) rs1057515877
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter) rs886042499
NM_004006.3(DMD):c.1481del (p.Lys494fs) rs1556853022
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter) rs1569230293
NM_004006.3(DMD):c.1704+1G>A rs794727123
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.1812+16C>T rs2052663784
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter) rs886041344
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter) rs1603636537
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter) rs1556780711
NM_004006.3(DMD):c.2176G>T (p.Val726Phe) rs886044365
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter) rs863224985
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter) rs398123883
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.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.336G>A (p.Trp112Ter) rs398123936
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter) rs868836192
NM_004006.3(DMD):c.3856G>T (p.Glu1286Ter) rs1569562570
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.4321C>A (p.Leu1441Met) rs2097990662
NM_004006.3(DMD):c.44del (p.Asp15fs) rs2093886453
NM_004006.3(DMD):c.4519-10T>G rs2097958853
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs) rs1064793479
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter) rs1557320194
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.4845+2T>G rs1557315881
NM_004006.3(DMD):c.5154+15A>G rs1603631739
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.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter) rs1057520764
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.5922+4A>G rs1603631218
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6276C>G (p.Tyr2092Ter) rs1569555987
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.3(DMD):c.631A>T (p.Lys211Ter) rs2148750714
NM_004006.3(DMD):c.6614+2T>C rs1060502641
NM_004006.3(DMD):c.6868A>T (p.Lys2290Ter) rs2094827879
NM_004006.3(DMD):c.686T>G (p.Leu229Ter) rs1556930769
NM_004006.3(DMD):c.6874G>T (p.Glu2292Ter) rs1569515486
NM_004006.3(DMD):c.6911del (p.Lys2304fs) rs2149988984
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter) rs1556790316
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter) rs1556764743
NM_004006.3(DMD):c.832-18_832-17delinsGA rs2063783358
NM_004006.3(DMD):c.8391-2A>G rs1556665303
NM_004006.3(DMD):c.8524C>T (p.Gln2842Ter) rs1569547229
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter) rs1556656298
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.891G>T (p.Lys297Asn) rs1569467457
NM_004006.3(DMD):c.9180del (p.Trp3061fs) rs1569526156
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly) rs1556280638
NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter) rs1569463953
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter) rs398124104

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