ClinVar Miner

List of variants in gene DMD reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.2645= (p.Asp882=) rs228406 0.99999
NM_004006.3(DMD):c.7096= (p.Lys2366=) rs1800275 0.78847
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
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.8810= (p.Arg2937=) rs1800280 0.04757
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.-8T>A rs113726961 0.02450
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.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
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.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
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.3970C>T (p.Arg1324Cys) rs143184877 0.00208
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.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00019
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) rs202008454 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004006.3(DMD):c.1761A>G (p.Thr587=) rs370103963 0.00016
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu) rs181517869 0.00007
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile) rs762475657 0.00003
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala) rs772229363 0.00003
NM_004006.3(DMD):c.3114G>A (p.Glu1038=) rs143810752 0.00003
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met) rs751810893 0.00003
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro) rs776275581 0.00002
NM_004006.3(DMD):c.4497G>A (p.Gln1499=) rs1417062461 0.00002
NM_004006.3(DMD):c.728T>C (p.Val243Ala) rs753509616 0.00002
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn) rs771081514 0.00002
NM_004006.3(DMD):c.-192C>T rs2051914908 0.00001
NM_004006.3(DMD):c.1047A>T (p.Glu349Asp) rs1044325754 0.00001
NM_004006.3(DMD):c.1112A>G (p.Asp371Gly) rs770239678 0.00001
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly) rs886043493 0.00001
NM_004006.3(DMD):c.5518G>C (p.Asp1840His) rs905571950 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004006.3(DMD):c.711A>C (p.Gln237His) rs778632674 0.00001
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr) rs764330616 0.00001
NM_004006.3(DMD):c.832-3C>T rs777492476 0.00001
NM_004006.2(DMD):c.-240G>T
NM_004006.2(DMD):c.3606_3607del rs1569562951
NM_004006.3(DMD):c.-123T>C rs760595740
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.100A>T (p.Lys34Ter) rs1557084280
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10121del (p.Lys3374fs) rs1556037429
NM_004006.3(DMD):c.10133del (p.Asn3378fs) rs863224975
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10223+1G>C rs398123834
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter) rs863224976
NM_004006.3(DMD):c.10432A>G (p.Ser3478Gly)
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter) rs886042495
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter) rs863224977
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter) rs1569401103
NM_004006.3(DMD):c.1150-2del rs863224978
NM_004006.3(DMD):c.1304_1331+10del rs1556875089
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr) rs748964279
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly) rs1556875180
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter) rs863224979
NM_004006.3(DMD):c.1331+1G>A rs863224980
NM_004006.3(DMD):c.1331+2dup rs1556875106
NM_004006.3(DMD):c.1360A>C (p.Asn454His)
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter) rs863224981
NM_004006.3(DMD):c.139G>T (p.Gly47Trp) rs1557084183
NM_004006.3(DMD):c.1483-1G>C rs863224982
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter) rs863224983
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter) rs863224984
NM_004006.3(DMD):c.1713dup (p.Ser572Ter) rs1601808932
NM_004006.3(DMD):c.1734del (p.Glu579fs) rs398123866
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.1973_1992+966del rs1603636515
NM_004006.3(DMD):c.2111del (p.Pro704fs) rs1569169736
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.2257G>T (p.Glu753Ter) rs1557396632
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter) rs762860653
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter) rs863224986
NM_004006.3(DMD):c.2423_2424insA (p.Asn809fs) rs1557383751
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter) rs863224987
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.2644del (p.Asp882fs) rs1557380670
NM_004006.3(DMD):c.265-2A>G rs863224989
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter) rs398123903
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter) rs128625227
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter) rs756949497
NM_004006.3(DMD):c.2804-2A>C rs794727357
NM_004006.3(DMD):c.280del (p.Ile94fs) rs863224990
NM_004006.3(DMD):c.282dup (p.Gly95fs) rs863224991
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter) rs863224992
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3172C>T (p.Gln1058Ter) rs2148428322
NM_004006.3(DMD):c.3217G>T (p.Glu1073Ter) rs398123931
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter) rs863224993
NM_004006.3(DMD):c.3432+1G>A rs398123937
NM_004006.3(DMD):c.3433-5_3434del rs863224994
NM_004006.3(DMD):c.355C>T (p.Gln119Ter) rs863224995
NM_004006.3(DMD):c.358-2A>G rs863224996
NM_004006.3(DMD):c.3603+1G>T rs1209389771
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3804G>A (p.Trp1268Ter) rs1569562573
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.419T>G (p.Leu140Arg) rs1557052675
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4409G>A (p.Arg1470His) rs752129019
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter) rs863224998
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter) rs1603632117
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.4758G>A (p.Trp1586Ter) rs1569560477
NM_004006.3(DMD):c.4918del (p.Thr1640fs) rs863225000
NM_004006.3(DMD):c.493G>T (p.Asp165Tyr) rs1569528100
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
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.5353C>T (p.Gln1785Ter) rs398123990
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5387dup (p.Leu1797fs) rs1603631365
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter) rs863225002
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter) rs128625228
NM_004006.3(DMD):c.5586+1G>A rs1557292599
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter) rs863225004
NM_004006.3(DMD):c.5679G>A (p.Leu1893=)
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter) rs398123997
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.589G>T (p.Glu197Ter) rs1340365803
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser) rs951731570
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.3(DMD):c.5995A>G (p.Thr1999Ala)
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser) rs1468473458
NM_004006.3(DMD):c.627del (p.Ile209fs) rs794727862
NM_004006.3(DMD):c.6290+5G>A rs886043467
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter) rs1425702864
NM_004006.3(DMD):c.6611dup (p.Arg2205fs) rs863225007
NM_004006.3(DMD):c.6762G>C (p.Lys2254Asn) rs1569516110
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) rs398124040
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter) rs863225008
NM_004006.3(DMD):c.7201-4A>G rs1556917126
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.7661-2A>G rs1556806356
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter) rs762394978
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter) rs863225009
NM_004006.3(DMD):c.8027+2T>A rs863225010
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.3(DMD):c.8196del (p.Glu2733fs) rs1556764753
NM_004006.3(DMD):c.8279A>G (p.Gln2760Arg)
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.3(DMD):c.8390+2T>C rs863225013
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter) rs398124072
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.881C>T (p.Pro294Leu) rs2063777083
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs) rs863225014
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9163+2T>G rs1556539065
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.93+2T>A rs1602765856
NM_004006.3(DMD):c.932A>G (p.Asp311Gly) rs760932600
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.94-1G>A rs863225016
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004006.3(DMD):c.941G>T (p.Arg314Leu) rs751164104
NM_004006.3(DMD):c.9477C>A (p.Asp3159Glu)
NM_004006.3(DMD):c.9551dup (p.Asn3184fs) rs863225017
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9880_9881dup (p.Trp3294fs) rs1569427535
NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer) rs863225018
NM_004006.3(DMD):c.9974G>C (p.Arg3325Thr) rs398124109
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
Single allele

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