ClinVar Miner

List of variants in gene DMD reported as likely pathogenic for Duchenne muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 330
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.5155-1G>C rs1220757614 0.00001
NM_004006.3(DMD):c.5739+1G>T rs886043041 0.00001
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
GRCh38/hg38 Xp21.1(chrX:31929309-31932391)x1
NC_000023.10:g.(?_31139940)_(31201031_?)del
NC_000023.10:g.(?_31187540)_(31222255_?)dup
NC_000023.10:g.(?_31187540)_(31366771_?)dup
NC_000023.10:g.(?_31187540)_(31382270_?)dup
NC_000023.10:g.(?_31187540)_(31676281_?)dup
NC_000023.10:g.(?_31196029)_(31201041_?)dup
NC_000023.10:g.(?_31196029)_(31525590_?)dup
NC_000023.10:g.(?_31196766)_(31241258_?)dup
NC_000023.10:g.(?_31196766)_(31986651_?)dup
NC_000023.10:g.(?_31222068)_(31341785_?)dup
NC_000023.10:g.(?_31223726)_(31224733_?)del
NC_000023.10:g.(?_31227595)_(31676281_?)dup
NC_000023.10:g.(?_31241144)_(31676281_?)dup
NC_000023.10:g.(?_31241144)_(32398817_?)dup
NC_000023.10:g.(?_31241154)_(31525580_?)dup
NC_000023.10:g.(?_31332523)_31697713dup
NC_000023.10:g.(?_31341705)_(31366761_?)dup
NC_000023.10:g.(?_31366653)_(31382270_?)dup
NC_000023.10:g.(?_31366653)_(31462764_?)dup
NC_000023.10:g.(?_31366653)_(31838220_?)dup
NC_000023.10:g.(?_31462578)_(31645999_?)dup
NC_000023.10:g.(?_31462588)_31645989dup
NC_000023.10:g.(?_31496203)_(31697723_?)dup
NC_000023.10:g.(?_31496203)_(31838220_?)dup
NC_000023.10:g.(?_31514885)_(31950364_?)dup
NC_000023.10:g.(?_31613687)_(31645989_?)dup
NC_000023.10:g.(?_31613687)_(31676281_?)del
NC_000023.10:g.(?_31613687)_(31792329_?)dup
NC_000023.10:g.(?_31613687)_(31986651_?)dup
NC_000023.10:g.(?_31613687)_31986641dup
NC_000023.10:g.(?_31669242)_(32361392_?)del
NC_000023.10:g.(?_31676087)_(31747885_?)dup
NC_000023.10:g.(?_31676087)_(32398817_?)dup
NC_000023.10:g.(?_31747827)_(31806244_?)del
NC_000023.10:g.(?_31751857)_(31792119_?)del
NC_000023.10:g.(?_31785365)_(31792122_?)del
NC_000023.10:g.(?_31792129)_(31825303_?)del
NC_000023.10:g.(?_31792306)_(31846389_?)del
NC_000023.10:g.(?_31854825)_(31893500_?)dup
NC_000023.10:g.(?_31854910)_(31872176_?)del
NC_000023.10:g.(?_31893285)_(31986651_?)dup
NC_000023.10:g.(?_31893295)_(31986641_?)dup
NC_000023.10:g.(?_31947703)_(32235190_?)dup
NC_000023.10:g.(?_31947703)_(32717420_?)dup
NC_000023.10:g.(?_31950260)_(32228258_?)del
NC_000023.10:g.(?_31983146)_(32328413_?)dup
NC_000023.10:g.(?_32002586)_(32235054_?)del
NC_000023.10:g.(?_32133802)_(32235152_?)del
NC_000023.10:g.(?_32235013)_(32398817_?)dup
NC_000023.10:g.(?_32235013)_(32408318_?)dup
NC_000023.10:g.(?_32292664)_(32305685_?)del
NC_000023.10:g.(?_32305626)_(32366665_?)dup
NC_000023.10:g.(?_32305626)_(32503236_?)dup
NC_000023.10:g.(?_32305636)_(32366860_?)dup
NC_000023.10:g.(?_32305636)_(32584008_?)dup
NC_000023.10:g.(?_32305636)_(32717420_?)dup
NC_000023.10:g.(?_32305636)_(32841514_?)dup
NC_000023.10:g.(?_32360197)_(32756908_?)dup
NC_000023.10:g.(?_32380885)_(32756908_?)dup
NC_000023.10:g.(?_32382679)_(32490446_?)dup
NC_000023.10:g.(?_32398607)_(32509655_?)dup
NC_000023.10:g.(?_32398607)_(32717430_?)dup
NC_000023.10:g.(?_32407608)_(32717420_?)dup
NC_000023.10:g.(?_32429849)_(32867957_?)dup
NC_000023.10:g.(?_32429859)_(32536258_?)dup
NC_000023.10:g.(?_32456338)_(32503236_?)dup
NC_000023.10:g.(?_32472769)_(32536267_?)dup
NC_000023.10:g.(?_32481546)_(32867947_?)dup
NC_000023.10:g.(?_32482693)_(33038327_?)dup
NC_000023.10:g.(?_32486595)_(32509655_?)dup
NC_000023.10:g.(?_32503016)_(32503236_?)dup
NC_000023.10:g.(?_32503016)_(32632590_?)dup
NC_000023.10:g.(?_32503016)_(32841967_?)dup
NC_000023.10:g.(?_32503016)_(32867957_?)dup
NC_000023.10:g.(?_32509374)_(32536268_?)dup
NC_000023.10:g.(?_32509384)_(32519969_?)del
NC_000023.10:g.(?_32509384)_(33038327_?)dup
NC_000023.10:g.(?_32519852)_(32536268_?)dup
NC_000023.10:g.(?_32536105)_(32563471_?)dup
NC_000023.10:g.(?_32563256)_(32614013_?)dup
NC_000023.10:g.(?_32563276)_(32563451_?)dup
NC_000023.10:g.(?_32582350)_(32591723_?)del
NC_000023.10:g.(?_32600728)_(33038337_?)dup
NC_000023.10:g.(?_32662387)_(32663462_?)del
NC_000023.10:g.(?_32715967)_(32827748_?)dup
NC_000023.10:g.(?_32715967)_(32867957_?)dup
NC_000023.10:g.(?_32715977)_(32716130_?)del
NC_000023.10:g.(?_32717372)_(32806980_?)del
NC_000023.10:g.(?_32827590)_(33229429_?)dup
NC_000023.10:g.(?_32827590)_(33357402_?)dup
NC_000023.10:g.(?_32827600)_(33357392_?)dup
NC_000023.10:g.(?_32827610)_(33229673_?)dup
NC_000023.10:g.(?_32834585)_(32862977_?)dup
NC_000023.10:g.(?_32841392)_(32841524_?)dup
NC_000023.10:g.(?_32841412)_(32841504_?)dup
NC_000023.11:g.(?_31146281)_(31147536_?)dup
NC_000023.11:g.(?_31177922)_(31223131_?)dup
NC_000023.11:g.(?_31203951)_(31210914_?)dup
NC_000023.11:g.(?_31496778)_(31658154_?)del
NC_000023.11:g.(?_31609621)_(31627872_?)dup
NC_000023.11:g.(?_31609621)_(31658154_?)del
NC_000023.11:g.(?_31609621)_(33020210_?)dup
NC_000023.11:g.(?_31627673)_(31658144_?)del
NC_000023.11:g.(?_31657980)_(31658154_?)dup
NC_000023.11:g.(?_31657980)_(31729758_?)dup
NC_000023.11:g.(?_31679365)_(31679596_?)dup
NC_000023.11:g.(?_31836708)_(32310286_?)dup
NC_000023.11:g.(?_32287519)_(32343296_?)dup
NC_000023.11:g.(?_32287519)_(32849830_?)dup
NC_000023.11:g.(?_32310072)_(32518150_?)dup
NC_000023.11:g.(?_32362768)_(32365219_?)del
NC_000023.11:g.(?_32454652)_(32699303_?)dup
NC_000023.11:g.(?_32472154)_(32472319_?)dup
NC_000023.11:g.(?_32491267)_(32518150_?)dup
NC_000023.11:g.(?_32501745)_(32501852_?)dup
NC_000023.11:g.(?_32614293)_(32849830_?)dup
NC_000023.11:g.(?_32697850)_(32823850_?)del
NC_000023.11:g.(?_32697860)_(32849830_?)del
NC_000023.11:g.31314406_31679596dup
NC_000023.11:g.31444471_31627872dup
NM_004006.2(DMD):c.7309+12789_7490del
NM_004006.2(DMD):c.94_264dup
NM_004006.2:c.94_3786dup
NM_004006.3(DMD):c.10010G>A (p.Cys3337Tyr) rs2041037870
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe) rs2041037870
NM_004006.3(DMD):c.1001T>A (p.Leu334Ter)
NM_004006.3(DMD):c.10087-2A>G rs1569420861
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly) rs2148292190
NM_004006.3(DMD):c.10109G>C (p.Arg3370Pro) rs1556037455
NM_004006.3(DMD):c.10223+3G>C rs2148290255
NM_004006.3(DMD):c.10224-1G>C rs2148280872
NM_004006.3(DMD):c.10224-2A>G
NM_004006.3(DMD):c.10224-6_10249delinsACT
NM_004006.3(DMD):c.10364dup (p.Asn3456fs) rs2040081209
NM_004006.3(DMD):c.10395-1G>A rs1602338283
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.10554-1G>C
NM_004006.3(DMD):c.10554-2A>G rs794727890
NM_004006.3(DMD):c.10797+5G>A rs398123846
NM_004006.3(DMD):c.10921+2T>C rs2147921052
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1149+1G>T
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1399dup (p.Thr467fs)
NM_004006.3(DMD):c.1402_1403del (p.Glu468fs) rs2149350070
NM_004006.3(DMD):c.1672del (p.Leu558fs) rs2052703269
NM_004006.3(DMD):c.1812+5G>A rs2149136134
NM_004006.3(DMD):c.181A>T (p.Lys61Ter)
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.196A>T (p.Lys66Ter) rs1603447072
NM_004006.3(DMD):c.1993-1G>A
NM_004006.3(DMD):c.1993-2A>G
NM_004006.3(DMD):c.1999C>T (p.Gln667Ter)
NM_004006.3(DMD):c.2168+1G>T rs1057518207
NM_004006.3(DMD):c.2278_2292+101delinsTGATAAA
NM_004006.3(DMD):c.2292+1G>A
NM_004006.3(DMD):c.2292+2T>G rs1557396600
NM_004006.3(DMD):c.2293-144_2339del
NM_004006.3(DMD):c.2381-1G>T rs398123887
NM_004006.3(DMD):c.2381-2A>C rs1603634749
NM_004006.3(DMD):c.2416_2417del (p.Glu806fs) rs2148632518
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.247dup (p.Val83fs)
NM_004006.3(DMD):c.2529del (p.Glu843fs) rs1603634743
NM_004006.3(DMD):c.2566C>T (p.Gln856Ter)
NM_004006.3(DMD):c.2622+2T>G
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn) rs2148630194
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.2656_2668del (p.Pro885_Gln886insTer)
NM_004006.3(DMD):c.2694dup (p.Glu899fs) rs1603634609
NM_004006.3(DMD):c.2737del (p.Ala913fs)
NM_004006.3(DMD):c.2803+5G>C rs1603634603
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.2857del (p.Thr953fs)
NM_004006.3(DMD):c.2870A>C (p.Gln957Pro) rs2148485378
NM_004006.3(DMD):c.287del (p.Ser96fs) rs2148850492
NM_004006.3(DMD):c.2933_2934del (p.Arg978fs) rs794727359
NM_004006.3(DMD):c.3149del (p.Leu1050fs)
NM_004006.3(DMD):c.3162+1G>A rs1335666832
NM_004006.3(DMD):c.3210del (p.Phe1070_Leu1071insTer) rs2148427910
NM_004006.3(DMD):c.3229_3233del (p.Ala1077fs)
NM_004006.3(DMD):c.323T>C (p.Leu108Pro) rs1557058350
NM_004006.3(DMD):c.3337_3338insTGGG (p.Gln1113fs)
NM_004006.3(DMD):c.3400del (p.Asn1135fs)
NM_004006.3(DMD):c.3414_3432+3del rs2148418008
NM_004006.3(DMD):c.3430C>T (p.Gln1144Ter) rs2148418069
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.3500_3501del (p.Leu1166_Ser1167insTer)
NM_004006.3(DMD):c.354G>A (p.Trp118Ter) rs2148849959
NM_004006.3(DMD):c.3574G>T (p.Glu1192Ter)
NM_004006.3(DMD):c.358-551_369delinsTTCTTTTCAGTTCAGCCAATAAATATAGCTTGCGTTAAATGATGGTATGAAATGATGGT rs2148807947
NM_004006.3(DMD):c.3603+2053G>C rs2148332252
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.3786+2T>A rs2148287085
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.378dup (p.Ile127fs)
NM_004006.3(DMD):c.3793del (p.Trp1265fs)
NM_004006.3(DMD):c.3921+2T>C
NM_004006.3(DMD):c.3922-1G>A
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.3(DMD):c.4053G>A (p.Trp1351Ter)
NM_004006.3(DMD):c.4069dup (p.Glu1357fs)
NM_004006.3(DMD):c.4072-1G>T rs1060502637
NM_004006.3(DMD):c.4198A>T (p.Lys1400Ter)
NM_004006.3(DMD):c.4234-2A>G
NM_004006.3(DMD):c.4345-1G>C rs2147613901
NM_004006.3(DMD):c.4345-1_4355del
NM_004006.3(DMD):c.4391del (p.Pro1464fs)
NM_004006.3(DMD):c.4444A>T (p.Lys1482Ter)
NM_004006.3(DMD):c.4518G>A (p.Val1506=) rs1557322177
NM_004006.3(DMD):c.4519-5C>G rs2147560185
NM_004006.3(DMD):c.4675-11A>G rs1557316295
NM_004006.3(DMD):c.4684del (p.Arg1562fs) rs2147473202
NM_004006.3(DMD):c.472A>C (p.Asn158His) rs2148806453
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del) rs1569528101
NM_004006.3(DMD):c.479_490delinsTTGATGGC (p.Thr160fs)
NM_004006.3(DMD):c.4846-1G>C rs1603631757
NM_004006.3(DMD):c.4846-1G>T rs1603631757
NM_004006.3(DMD):c.4961del (p.Ser1654fs)
NM_004006.3(DMD):c.5012T>G (p.Leu1671Ter)
NM_004006.3(DMD):c.5025+1del
NM_004006.3(DMD):c.5026-2A>G rs1569559849
NM_004006.3(DMD):c.506dup (p.Leu169fs) rs2148806096
NM_004006.3(DMD):c.5114C>A (p.Ser1705Ter) rs2097848034
NM_004006.3(DMD):c.5154+2T>C rs1569559822
NM_004006.3(DMD):c.5155-1G>T rs1220757614
NM_004006.3(DMD):c.5363C>A (p.Ser1788Ter) rs199774535
NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly) rs2147063753
NM_004006.3(DMD):c.5530del (p.Arg1844fs) rs2097762566
NM_004006.3(DMD):c.5574_5575del (p.His1858fs)
NM_004006.3(DMD):c.5656dup (p.Ala1886fs) rs2146991528
NM_004006.3(DMD):c.5662del (p.Asp1888fs)
NM_004006.3(DMD):c.5738_5739+4del rs2146989498
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.5947del (p.Met1983fs)
NM_004006.3(DMD):c.6057del (p.Asn2019fs)
NM_004006.3(DMD):c.6147del (p.Gly2050fs)
NM_004006.3(DMD):c.6171del (p.Ser2057fs)
NM_004006.3(DMD):c.6253del (p.Trp2085fs) rs2097447453
NM_004006.3(DMD):c.6290+5G>A rs886043467
NM_004006.3(DMD):c.6290+5G>T
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
NM_004006.3(DMD):c.631A>T (p.Lys211Ter) rs2148750714
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter) rs1603628479
NM_004006.3(DMD):c.6439-1_6439delinsAA
NM_004006.3(DMD):c.649+5G>A rs1557047808
NM_004006.3(DMD):c.650-1G>A rs2063903818
NM_004006.3(DMD):c.650-1G>T rs2063903818
NM_004006.3(DMD):c.650-1_650delinsTT
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.6614+3310G>T rs797045526
NM_004006.3(DMD):c.6614G>T (p.Arg2205Met) rs1603618489
NM_004006.3(DMD):c.6785del (p.Leu2262fs)
NM_004006.3(DMD):c.6912+1G>A rs746082869
NM_004006.3(DMD):c.6912+1G>T
NM_004006.3(DMD):c.6913-11_6918del rs1556962571
NM_004006.3(DMD):c.7000G>T (p.Glu2334Ter)
NM_004006.3(DMD):c.7085_7088dup (p.Asp2364fs) rs1556962271
NM_004006.3(DMD):c.7197dup (p.Lys2400fs) rs2149493164
NM_004006.3(DMD):c.7201-1G>C
NM_004006.3(DMD):c.7201-2A>G
NM_004006.3(DMD):c.7201-398_7215del rs2149424713
NM_004006.3(DMD):c.7309+1G>C rs398124044
NM_004006.3(DMD):c.7327_7328del (p.Thr2443fs)
NM_004006.3(DMD):c.7348_7542+748delinsTCACCA
NM_004006.3(DMD):c.7543-2A>G rs2149018666
NM_004006.3(DMD):c.7569_7571delinsTT (p.Arg2523fs)
NM_004006.3(DMD):c.7819A>T (p.Lys2607Ter)
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.78T>G (p.Asn26Lys) rs794727272
NM_004006.3(DMD):c.799_831+12del
NM_004006.3(DMD):c.8028-501_8078del
NM_004006.3(DMD):c.803del (p.Leu268fs) rs2063891560
NM_004006.3(DMD):c.831G>C (p.Gln277His) rs398124067
NM_004006.3(DMD):c.832-15A>G rs72470513
NM_004006.3(DMD):c.832-2A>C rs2063781031
NM_004006.3(DMD):c.8390G>A (p.Arg2797Lys) rs1603280511
NM_004006.3(DMD):c.8391-1_8391delinsAA rs1060502619
NM_004006.3(DMD):c.8391-2A>G rs1556665303
NM_004006.3(DMD):c.8401G>T (p.Glu2801Ter) rs2147076595
NM_004006.3(DMD):c.8459G>A (p.Trp2820Ter) rs886039785
NM_004006.3(DMD):c.847del (p.Ala283fs)
NM_004006.3(DMD):c.848dup (p.Gln284fs)
NM_004006.3(DMD):c.8547+1G>A rs1556665052
NM_004006.3(DMD):c.8851_8861del (p.Arg2951fs)
NM_004006.3(DMD):c.8937+1G>A
NM_004006.3(DMD):c.8938-3C>G rs398124079
NM_004006.3(DMD):c.8944del (p.Arg2982fs)
NM_004006.3(DMD):c.9084+2T>C
NM_004006.3(DMD):c.9163+2T>A
NM_004006.3(DMD):c.9163+2T>C rs1556539065
NM_004006.3(DMD):c.9224+2T>A
NM_004006.3(DMD):c.9224+5G>A rs1556503812
NM_004006.3(DMD):c.9224+5G>C rs1556503812
NM_004006.3(DMD):c.9238dup (p.Thr3080fs) rs2147649419
NM_004006.3(DMD):c.9286+2T>G
NM_004006.3(DMD):c.9287-27_9287-2del rs1064792968
NM_004006.3(DMD):c.9361+1G>T
NM_004006.3(DMD):c.9361+1del
NM_004006.3(DMD):c.94-1del rs2149015763
NM_004006.3(DMD):c.94-3_94-2del rs2149015783
NM_004006.3(DMD):c.9442_9457del (p.Leu3148fs)
NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter) rs778367724
NM_004006.3(DMD):c.9563+1215A>G
NM_004006.3(DMD):c.9563+5G>C rs764119686
NM_004006.3(DMD):c.9564-1G>A rs398124096
NM_004006.3(DMD):c.9564-2A>G rs1602696519
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004006.3(DMD):c.9650-4_9655del rs1060502653
NM_004006.3(DMD):c.979del (p.Asp327fs)
NM_004006.3(DMD):c.9807+2T>G rs2043792360
NM_004006.3(DMD):c.9807+5G>A rs1569460607
NM_004006.3(DMD):c.9888del (p.Val3297fs)
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe) rs886043597
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu) rs1602454639
NM_004006.3(DMD):c.9971dup (p.Arg3325fs) rs1602454605
NM_004006.3:c.649+4_649+27199del
NM_004020.4(DMD):c.2843+6256_2843+6260dup rs1602360475
Single allele

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