ClinVar Miner

List of variants reported as pathogenic for Duchenne muscular dystrophy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 652
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_31196029)_(31201041_?)dup
NC_000023.10:g.(?_31222078)_(31241238_?)dup
NC_000023.10:g.(?_31224679)_(31382270_?)dup
NC_000023.10:g.(?_31279052)_(31747885_?)dup
NC_000023.10:g.(?_31332523)_(31462764_?)dup
NC_000023.10:g.(?_31332523)_(31525580_?)dup
NC_000023.10:g.(?_31332523)_(31526374_?)dup
NC_000023.10:g.(?_31332523)_(31627738_?)dup
NC_000023.10:g.(?_31341695)_(31341795_?)dup
NC_000023.10:g.(?_31341705)_(31341785_?)dup
NC_000023.10:g.(?_31366653)_(31747885_?)dup
NC_000023.10:g.(?_31514885)_(31697723_?)dup
NC_000023.10:g.(?_31627738)_(31747885_?)del
NC_000023.10:g.(?_31627738)_(31838220_?)dup
NC_000023.10:g.(?_31645770)_(31838220_?)dup
NC_000023.10:g.(?_31747728)_(31893510_?)del
NC_000023.10:g.(?_31747728)_(31893510_?)dup
NC_000023.10:g.(?_31747728)_(31986651_?)del
NC_000023.10:g.(?_31792057)_(31893510_?)del
NC_000023.10:g.(?_31792057)_(31950364_?)del
NC_000023.10:g.(?_31838072)_(31838220_?)dup
NC_000023.10:g.(?_31838072)_(31893510_?)del
NC_000023.10:g.(?_31838072)_(31986651_?)del
NC_000023.10:g.(?_31854815)_(31986651_?)del
NC_000023.10:g.(?_31893285)_(32235200_?)dup
NC_000023.10:g.(?_31947693)_(31950364_?)del
NC_000023.10:g.(?_31947693)_(31986651_?)del
NC_000023.10:g.(?_32235013)_(32490446_?)dup
NC_000023.10:g.(?_32235013)_(33038337_?)dup
NC_000023.10:g.(?_32305626)_(32509655_?)dup
NC_000023.10:g.(?_32305646)_(32328393_?)dup
NC_000023.10:g.(?_32404417)_(32717420_?)dup
NC_000023.10:g.(?_32429849)_(33038337_?)dup
NC_000023.10:g.(?_32481556)_(32509635_?)dup
NC_000023.10:g.(?_32509374)_(32509655_?)dup
NC_000023.10:g.(?_32536115)_(32536267_?)dup
NC_000023.10:g.(?_32563256)_(32591983_?)dup
NC_000023.10:g.(?_32563266)_(32717420_?)dup
NC_000023.10:g.(?_32583819)_(32632570_?)dup
NC_000023.10:g.(?_32632400)_(32632590_?)dup
NC_000023.10:g.(?_32632410)_(33038327_?)dup
NC_000023.10:g.(?_32662229)_(32669194_?)dup
NC_000023.10:g.(?_32715967)_(33146302_?)dup
NC_000023.10:g.(?_32827590)_(32841967_?)dup
NC_000023.10:g.(?_32827590)_(32867957_?)dup
NC_000023.10:g.(?_32827600)_(32834767_?)dup
NC_000023.10:g.(?_32827600)_(32867947_?)dup
NC_000023.10:g.(?_32827600)_(33038327_?)dup
NC_000023.10:g.(?_32827610)_(33038317_?)dup
NC_000023.10:g.(?_32862900)_(32867937_?)dup
NC_000023.10:g.(?_33032666)_(33038327_?)dup
NC_000023.10:g.(?_33032666)_(33038337_?)dup
NC_000023.10:g.(?_33038236)_(33038337_?)dup
NC_000023.11:g.(?_31119228)_(33211556_?)del
NC_000023.11:g.(?_31121823)_(32849830_?)del
NC_000023.11:g.(?_31169433)_(31507463_?)dup
NC_000023.11:g.(?_31223027)_(31223141_?)del
NC_000023.11:g.(?_31260945)_(31261664_?)del
NC_000023.11:g.(?_31260955)_(31261016_?)del
NC_000023.11:g.(?_31314406)_(31364153_?)del
NC_000023.11:g.(?_31314406)_(31820093_?)dup
NC_000023.11:g.(?_31323578)_(31508257_?)del
NC_000023.11:g.(?_31323588)_(31323668_?)del
NC_000023.11:g.(?_31323588)_(31507463_?)del
NC_000023.11:g.(?_31323598)_(31479103_?)del
NC_000023.11:g.(?_31323598)_(31836819_?)del
NC_000023.11:g.(?_31348536)_(31479123_?)del
NC_000023.11:g.(?_31348546)_(31364153_?)del
NC_000023.11:g.(?_31348546)_(31507463_?)del
NC_000023.11:g.(?_31348546)_(31507463_?)dup
NC_000023.11:g.(?_31444461)_(31679606_?)del
NC_000023.11:g.(?_31444471)_(31658154_?)del
NC_000023.11:g.(?_31444481)_(31496944_?)del
NC_000023.11:g.(?_31478096)_(31774202_?)del
NC_000023.11:g.(?_31478106)_(31932227_?)del
NC_000023.11:g.(?_31496768)_(31679606_?)del
NC_000023.11:g.(?_31496768)_(31875393_?)del
NC_000023.11:g.(?_31496778)_(31507463_?)del
NC_000023.11:g.(?_31496788)_(31627862_?)del
NC_000023.11:g.(?_31496788)_(31875373_?)del
NC_000023.11:g.(?_31507271)_(31507463_?)del
NC_000023.11:g.(?_31595570)_(31774202_?)del
NC_000023.11:g.(?_31595570)_(31968524_?)del
NC_000023.11:g.(?_31609584)_(31968514_?)del
NC_000023.11:g.(?_31609621)_(31679596_?)del
NC_000023.11:g.(?_31609621)_(31679596_?)dup
NC_000023.11:g.(?_31609621)_(31774202_?)del
NC_000023.11:g.(?_31609621)_(31774212_?)del
NC_000023.11:g.(?_31609621)_(31836829_?)del
NC_000023.11:g.(?_31609621)_(31836839_?)del
NC_000023.11:g.(?_31609621)_(31875393_?)del
NC_000023.11:g.(?_31609621)_(31932237_?)del
NC_000023.11:g.(?_31609621)_(31932247_?)del
NC_000023.11:g.(?_31609621)_(31968524_?)del
NC_000023.11:g.(?_31609621)_(31968534_?)del
NC_000023.11:g.(?_31609621)_(32217073_?)dup
NC_000023.11:g.(?_31609621)_(32365209_?)del
NC_000023.11:g.(?_31609621)_(32501852_?)del
NC_000023.11:g.(?_31627653)_(31679606_?)del
NC_000023.11:g.(?_31627653)_(31932247_?)del
NC_000023.11:g.(?_31627653)_(31968534_?)del
NC_000023.11:g.(?_31627663)_(31774202_?)del
NC_000023.11:g.(?_31627663)_(31820093_?)dup
NC_000023.11:g.(?_31627663)_(31968524_?)del
NC_000023.11:g.(?_31657970)_(31774212_?)del
NC_000023.11:g.(?_31657970)_(31932247_?)del
NC_000023.11:g.(?_31657970)_(31968534_?)del
NC_000023.11:g.(?_31657980)_(31679596_?)del
NC_000023.11:g.(?_31657980)_(31729758_?)del
NC_000023.11:g.(?_31657980)_(31774202_?)del
NC_000023.11:g.(?_31657980)_(31820093_?)del
NC_000023.11:g.(?_31657980)_(31836829_?)del
NC_000023.11:g.(?_31657980)_(31932237_?)del
NC_000023.11:g.(?_31657980)_(31968524_?)del
NC_000023.11:g.(?_31657980)_(32287711_?)del
NC_000023.11:g.(?_31657990)_(31820083_?)del
NC_000023.11:g.(?_31657990)_(31836819_?)del
NC_000023.11:g.(?_31679355)_(31679606_?)del
NC_000023.11:g.(?_31679355)_(31774212_?)del
NC_000023.11:g.(?_31679355)_(31875393_?)del
NC_000023.11:g.(?_31679355)_(31968534_?)del
NC_000023.11:g.(?_31679365)_(31679596_?)del
NC_000023.11:g.(?_31679365)_(31836829_?)del
NC_000023.11:g.(?_31679365)_(31879410_?)del
NC_000023.11:g.(?_31679365)_(31932237_?)del
NC_000023.11:g.(?_31679365)_(31968524_?)del
NC_000023.11:g.(?_31729611)_(31774212_?)del
NC_000023.11:g.(?_31729611)_(31932247_?)del
NC_000023.11:g.(?_31729621)_(31729758_?)del
NC_000023.11:g.(?_31729621)_(31729758_?)dup
NC_000023.11:g.(?_31729621)_(31774202_?)del
NC_000023.11:g.(?_31729621)_(31820093_?)del
NC_000023.11:g.(?_31729621)_(31820093_?)dup
NC_000023.11:g.(?_31729621)_(31836829_?)del
NC_000023.11:g.(?_31729621)_(31879410_?)del
NC_000023.11:g.(?_31729621)_(31932237_?)del
NC_000023.11:g.(?_31729621)_(31968524_?)del
NC_000023.11:g.(?_31729625)_(31774198_?)del
NC_000023.11:g.(?_31729631)_(31729748_?)del
NC_000023.11:g.(?_31729631)_(31774192_?)del
NC_000023.11:g.(?_31729631)_(31820083_?)del
NC_000023.11:g.(?_31729631)_(31932227_?)del
NC_000023.11:g.(?_31773940)_(31836839_?)del
NC_000023.11:g.(?_31773940)_(31968534_?)del
NC_000023.11:g.(?_31773940)_(32217083_?)del
NC_000023.11:g.(?_31773950)_(31774202_?)del
NC_000023.11:g.(?_31773950)_(31836829_?)del
NC_000023.11:g.(?_31773950)_(31875383_?)del
NC_000023.11:g.(?_31773950)_(31879410_?)del
NC_000023.11:g.(?_31773950)_(31932237_?)del
NC_000023.11:g.(?_31773950)_(31932237_?)dup
NC_000023.11:g.(?_31773950)_(31965029_?)del
NC_000023.11:g.(?_31773950)_(31968524_?)del
NC_000023.11:g.(?_31773950)_(32573856_?)del
NC_000023.11:g.(?_31773960)_(31774192_?)del
NC_000023.11:g.(?_31773960)_(31836819_?)del
NC_000023.11:g.(?_31819955)_(31820103_?)del
NC_000023.11:g.(?_31819955)_(31932247_?)del
NC_000023.11:g.(?_31819965)_(31820093_?)del
NC_000023.11:g.(?_31819965)_(31836829_?)del
NC_000023.11:g.(?_31819965)_(31875383_?)del
NC_000023.11:g.(?_31819965)_(31879410_?)del
NC_000023.11:g.(?_31819965)_(31929755_?)del
NC_000023.11:g.(?_31819965)_(31932237_?)del
NC_000023.11:g.(?_31819965)_(31965029_?)del
NC_000023.11:g.(?_31819965)_(31968524_?)del
NC_000023.11:g.(?_31819965)_(32217073_?)del
NC_000023.11:g.(?_31819975)_(31836819_?)del
NC_000023.11:g.(?_31836698)_(31875393_?)del
NC_000023.11:g.(?_31836698)_(31932247_?)del
NC_000023.11:g.(?_31836698)_(32365219_?)del
NC_000023.11:g.(?_31836708)_(31836829_?)del
NC_000023.11:g.(?_31836708)_(31879410_?)del
NC_000023.11:g.(?_31836708)_(31932237_?)del
NC_000023.11:g.(?_31836708)_(31965029_?)del
NC_000023.11:g.(?_31836708)_(31968524_?)del
NC_000023.11:g.(?_31836708)_(31968524_?)dup
NC_000023.11:g.(?_31836718)_(31875373_?)del
NC_000023.11:g.(?_31875168)_(31875393_?)del
NC_000023.11:g.(?_31875168)_(31932247_?)del
NC_000023.11:g.(?_31875168)_(31968534_?)del
NC_000023.11:g.(?_31875168)_(33339285_?)del
NC_000023.11:g.(?_31875178)_(31875383_?)del
NC_000023.11:g.(?_31875178)_(31879410_?)del
NC_000023.11:g.(?_31875178)_(31932237_?)del
NC_000023.11:g.(?_31875178)_(31968524_?)del
NC_000023.11:g.(?_31875178)_(32217073_?)del
NC_000023.11:g.(?_31875178)_(32217073_?)dup
NC_000023.11:g.(?_31879410)_(31932237_?)del
NC_000023.11:g.(?_31879410)_(31968524_?)del
NC_000023.11:g.(?_31929576)_(31929765_?)del
NC_000023.11:g.(?_31929576)_(32217083_?)del
NC_000023.11:g.(?_31929576)_(32365219_?)del
NC_000023.11:g.(?_31929586)_(31929755_?)del
NC_000023.11:g.(?_31929586)_(31932237_?)del
NC_000023.11:g.(?_31929586)_(31968524_?)del
NC_000023.11:g.(?_31929590)_(31968520_?)del
NC_000023.11:g.(?_31932060)_(31932247_?)del
NC_000023.11:g.(?_31932060)_(31968534_?)del
NC_000023.11:g.(?_31932070)_(31932237_?)del
NC_000023.11:g.(?_31932070)_(31968524_?)del
NC_000023.11:g.(?_31965029)_(31968524_?)del
NC_000023.11:g.(?_31965029)_(31968524_?)dup
NC_000023.11:g.(?_31965029)_(32614463_?)del
NC_000023.11:g.(?_31968319)_(31968534_?)del
NC_000023.11:g.(?_31968329)_(31968524_?)del
NC_000023.11:g.(?_31968339)_(31968514_?)del
NC_000023.11:g.(?_32216896)_(32217083_?)del
NC_000023.11:g.(?_32216896)_(32365219_?)del
NC_000023.11:g.(?_32216896)_(32454852_?)del
NC_000023.11:g.(?_32216896)_(32472329_?)del
NC_000023.11:g.(?_32216896)_(32501862_?)del
NC_000023.11:g.(?_32216896)_(32651077_?)del
NC_000023.11:g.(?_32216896)_(32698018_?)del
NC_000023.11:g.(?_32216896)_(32849840_?)del
NC_000023.11:g.(?_32216906)_(32217073_?)del
NC_000023.11:g.(?_32216906)_(32217073_?)dup
NC_000023.11:g.(?_32216906)_(32287711_?)del
NC_000023.11:g.(?_32216906)_(32442157_?)del
NC_000023.11:g.(?_32216906)_(32573856_?)del
NC_000023.11:g.(?_32216906)_(32595886_?)del
NC_000023.11:g.(?_32216906)_(32614463_?)del
NC_000023.11:g.(?_32216906)_(32699303_?)del
NC_000023.11:g.(?_32216906)_(32699303_?)dup
NC_000023.11:g.(?_32216906)_(33211366_?)del
NC_000023.11:g.(?_32287509)_(32287721_?)del
NC_000023.11:g.(?_32287509)_(32362978_?)del
NC_000023.11:g.(?_32287509)_(32390201_?)del
NC_000023.11:g.(?_32287519)_(32287711_?)del
NC_000023.11:g.(?_32287519)_(32310286_?)del
NC_000023.11:g.(?_32287519)_(32310286_?)dup
NC_000023.11:g.(?_32287519)_(32365209_?)del
NC_000023.11:g.(?_32287519)_(32386475_?)del
NC_000023.11:g.(?_32287519)_(32390191_?)del
NC_000023.11:g.(?_32287519)_(32823850_?)del
NC_000023.11:g.(?_32287529)_(32310276_?)del
NC_000023.11:g.(?_32310062)_(32651077_?)del
NC_000023.11:g.(?_32310072)_(32454842_?)del
NC_000023.11:g.(?_32342080)_(32518151_?)del
NC_000023.11:g.(?_32342090)_(32699303_?)dup
NC_000023.11:g.(?_32342090)_(32849830_?)del
NC_000023.11:g.(?_32362768)_(32699313_?)del
NC_000023.11:g.(?_32380500)_(32699303_?)del
NC_000023.11:g.(?_32380500)_(32816650_?)del
NC_000023.11:g.(?_32386290)_(32849840_?)del
NC_000023.11:g.(?_32390061)_(32823850_?)del
NC_000023.11:g.(?_32411732)_(32573866_?)del
NC_000023.11:g.(?_32411732)_(32614473_?)del
NC_000023.11:g.(?_32411742)_(32472319_?)del
NC_000023.11:g.(?_32411742)_(32651077_?)del
NC_000023.11:g.(?_32411742)_(32699303_?)del
NC_000023.11:g.(?_32438221)_(32518151_?)del
NC_000023.11:g.(?_32438221)_(32614473_?)del
NC_000023.11:g.(?_32438221)_(32651077_?)del
NC_000023.11:g.(?_32438221)_(32699313_?)del
NC_000023.11:g.(?_32438221)_(32849840_?)del
NC_000023.11:g.(?_32438231)_(32518150_?)del
NC_000023.11:g.(?_32438231)_(32573856_?)del
NC_000023.11:g.(?_32438231)_(32651077_?)del
NC_000023.11:g.(?_32438231)_(32849830_?)del
NC_000023.11:g.(?_32438241)_(32491518_?)del
NC_000023.11:g.(?_32452609)_(32699303_?)del
NC_000023.11:g.(?_32461199)_(32573856_?)del
NC_000023.11:g.(?_32461199)_(32844870_?)del
NC_000023.11:g.(?_32461199)_(32849830_?)del
NC_000023.11:g.(?_32463429)_(32595886_?)del
NC_000023.11:g.(?_32468488)_(32849830_?)del
NC_000023.11:g.(?_32472144)_(32651077_?)del
NC_000023.11:g.(?_32472154)_(32651077_?)del
NC_000023.11:g.(?_32484899)_(32699313_?)del
NC_000023.11:g.(?_32484899)_(32849840_?)del
NC_000023.11:g.(?_32484909)_(32501852_?)del
NC_000023.11:g.(?_32491267)_(32545344_?)del
NC_000023.11:g.(?_32491267)_(32849830_?)del
NC_000023.11:g.(?_32501735)_(32501862_?)del
NC_000023.11:g.(?_32501745)_(32501852_?)del
NC_000023.11:g.(?_32501745)_(32545344_?)dup
NC_000023.11:g.(?_32517988)_(32518151_?)del
NC_000023.11:g.(?_32517988)_(33339285_?)del
NC_000023.11:g.(?_32517998)_(32651077_?)del
NC_000023.11:g.(?_32518008)_(32699293_?)del
NC_000023.11:g.(?_32545139)_(32645172_?)del
NC_000023.11:g.(?_32545149)_(32573856_?)dup
NC_000023.11:g.(?_32545149)_(32595886_?)del
NC_000023.11:g.(?_32545159)_(32849820_?)del
NC_000023.11:g.(?_32565692)_(32626362_?)del
NC_000023.11:g.(?_32573520)_(32573856_?)del
NC_000023.11:g.(?_32573520)_(32849830_?)del
NC_000023.11:g.(?_32573530)_(32699293_?)del
NC_000023.11:g.(?_32595737)_(32595896_?)del
NC_000023.11:g.(?_32595737)_(32699313_?)del
NC_000023.11:g.(?_32595737)_(32823850_?)del
NC_000023.11:g.(?_32595747)_(32595886_?)del
NC_000023.11:g.(?_32595747)_(32651077_?)del
NC_000023.11:g.(?_32595757)_(32849820_?)del
NC_000023.11:g.(?_32614283)_(32645172_?)del
NC_000023.11:g.(?_32614283)_(32849840_?)del
NC_000023.11:g.(?_32614293)_(32614463_?)dup
NC_000023.11:g.(?_32614293)_(32816650_?)del
NC_000023.11:g.(?_32626362)_(32849830_?)del
NC_000023.11:g.(?_32644112)_(32651077_?)del
NC_000023.11:g.(?_32644122)_(32644323_?)del
NC_000023.11:g.(?_32644122)_(32645162_?)dup
NC_000023.11:g.(?_32644122)_(32651077_?)del
NC_000023.11:g.(?_32644122)_(32823850_?)del
NC_000023.11:g.(?_32644132)_(32849820_?)del
NC_000023.11:g.(?_32650983)_(32849830_?)dup
NC_000023.11:g.(?_32697850)_(32699313_?)del
NC_000023.11:g.(?_32697860)_(32699303_?)del
NC_000023.11:g.(?_32697860)_(32699303_?)dup
NC_000023.11:g.(?_32699102)_(32699303_?)del
NC_000023.11:g.(?_32809473)_(32816660_?)del
NC_000023.11:g.(?_32809473)_(32823850_?)del
NC_000023.11:g.(?_32809473)_(32849840_?)del
NC_000023.11:g.(?_32809473)_(33020220_?)del
NC_000023.11:g.(?_32809483)_(32823850_?)del
NC_000023.11:g.(?_32809483)_(32844870_?)del
NC_000023.11:g.(?_32809483)_(32849830_?)del
NC_000023.11:g.(?_32816448)_(32849840_?)del
NC_000023.11:g.(?_32816458)_(32816650_?)dup
NC_000023.11:g.(?_32816458)_(32823850_?)del
NC_000023.11:g.(?_32816458)_(32844870_?)dup
NC_000023.11:g.(?_32816458)_(32849830_?)del
NC_000023.11:g.(?_32816458)_(33211312_?)del
NC_000023.11:g.(?_32823275)_(32823850_?)del
NC_000023.11:g.(?_32823275)_(32849840_?)del
NC_000023.11:g.(?_32823285)_(32849830_?)del
NC_000023.11:g.(?_32844773)_(32849830_?)del
NC_000023.11:g.(?_32844773)_(33020210_?)dup
NC_000023.11:g.(?_32849718)_(32849830_?)del
NC_000023.11:g.(?_33174335)_(33211366_?)del
NC_000023.11:g.(?_33211262)_(33211366_?)del
NC_000023.11:g.31444471_31679596dup
NC_000023.11:g.32545149_32651077dup
NC_000023.11:g.32823388del
NM_000109.4(DMD):c.10701del (p.Met3568fs) rs1060502625
NM_000109.4(DMD):c.1230_1231dup (p.Glu411fs) rs1602460062
NM_000109.4(DMD):c.1315_1316AG[3] (p.Val440fs) rs398123856
NM_000109.4(DMD):c.1452del (p.Gln484fs) rs1556853039
NM_000109.4(DMD):c.1501_1502TC[2] (p.Leu502fs) rs398123863
NM_000109.4(DMD):c.1553del (p.Thr518fs) rs1569273905
NM_000109.4(DMD):c.1771del (p.Ser591fs) rs1556809704
NM_000109.4(DMD):c.1966C>T (p.Gln656Ter) rs398123870
NM_000109.4(DMD):c.2052dup (p.Gln685fs) rs1060502635
NM_000109.4(DMD):c.2105del (p.Lys702fs) rs1569169560
NM_000109.4(DMD):c.2395C>T (p.Gln799Ter) rs398123888
NM_000109.4(DMD):c.2437_2438GA[1] (p.Glu813fs) rs1603634744
NM_000109.4(DMD):c.2461C>T (p.Gln821Ter) rs753662330
NM_000109.4(DMD):c.2614del (p.Leu872fs) rs1557380685
NM_000109.4(DMD):c.2709dup (p.Val904fs) rs1557380496
NM_000109.4(DMD):c.2780-1del rs1557374667
NM_000109.4(DMD):c.3364_3365dup (p.Leu1123fs) rs1557369413
NM_000109.4(DMD):c.353dup (p.Asn118fs) rs1569528138
NM_000109.4(DMD):c.3689del (p.Lys1230fs) rs1557362198
NM_000109.4(DMD):c.3793del (p.Ser1265fs) rs1557359217
NM_000109.4(DMD):c.4586dup (p.Asn1529fs) rs1603632245
NM_000109.4(DMD):c.4894_4895delinsTG (p.Thr1632Ter) rs1557305645
NM_000109.4(DMD):c.4910_4913del (p.Lys1637fs) rs1060502632
NM_000109.4(DMD):c.5072_5073AC[2] (p.Leu1693fs) rs1060502647
NM_000109.4(DMD):c.5115del (p.Glu1706fs) rs1557304860
NM_000109.4(DMD):c.5431_5435dup (p.Asn1812fs) rs1569559110
NM_000109.4(DMD):c.5463_5464del (p.Gly1823fs) rs1569559106
NM_000109.4(DMD):c.5524_5528del (p.Lys1842fs) rs1557292678
NM_000109.4(DMD):c.5589_5616del (p.Lys1863fs) rs1557291170
NM_000109.4(DMD):c.5860_5867del (p.Lys1954fs) rs1060502646
NM_000109.4(DMD):c.6181del (p.Val2061fs) rs1060502640
NM_000109.4(DMD):c.632dup (p.Asp211fs) rs1556930839
NM_000109.4(DMD):c.6365_6366CA[1] (p.Gln2123fs) rs398124012
NM_000109.4(DMD):c.670_674ATCAC[3] (p.Leu227fs) rs1569469298
NM_000109.4(DMD):c.7+127965del rs1557300135
NM_000109.4(DMD):c.7+127975del rs1603419076
NM_000109.4(DMD):c.7592dup (p.Asn2531fs) rs1603452196
NM_000109.4(DMD):c.7747G>T (p.Glu2583Ter) rs398124055
NM_000109.4(DMD):c.7757del (p.Gln2586fs) rs878854621
NM_000109.4(DMD):c.8042_8046del (p.Arg2681fs) rs1556764934
NM_000109.4(DMD):c.8072_8088del (p.Glu2691fs) rs1556764880
NM_000109.4(DMD):c.833dup (p.Tyr278Ter) rs1556929259
NM_000109.4(DMD):c.8555del (p.Pro2852fs) rs1556656847
NM_000109.4(DMD):c.8580dup (p.Val2861fs) rs1556656818
NM_000109.4(DMD):c.8651del (p.Pro2884fs) rs1556656487
NM_000109.4(DMD):c.8659dup (p.Glu2887fs) rs1556656456
NM_000109.4(DMD):c.8944_8945GA[1] (p.Asn2983fs) rs863225014
NM_000109.4(DMD):c.8968del (p.Ala2991fs) rs1602938385
NM_000109.4(DMD):c.9016dup (p.Leu3006fs) rs1556641290
NM_000109.4(DMD):c.9176_9179CAAA[1] (p.Asn3060fs) rs863225015
NM_000109.4(DMD):c.9214_9217del (p.Thr3072fs) rs1060502624
NM_000109.4(DMD):c.9444del (p.Ile3149fs) rs1602728959
NM_000109.4(DMD):c.9857_9866del (p.Trp3286fs) rs1556046080
NM_004006.2(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.2(DMD):c.1006G>T (p.Glu336Ter) rs1057522454
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.2(DMD):c.10182C>A (p.Tyr3394Ter) rs1602416457
NM_004006.2(DMD):c.10224-175_10230del rs1556035817
NM_004006.2(DMD):c.10238del (p.Ile3413fs) rs1556035795
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.10361del (p.Tyr3454fs) rs886043084
NM_004006.2(DMD):c.10406_10407insAA (p.His3469fs) rs1060502630
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.2(DMD):c.10477C>T (p.Gln3493Ter) rs886042495
NM_004006.2(DMD):c.1061G>A (p.Trp354Ter) rs1060502644
NM_004006.2(DMD):c.1075G>T (p.Glu359Ter) rs1556876346
NM_004006.2(DMD):c.10765C>T (p.Gln3589Ter) rs1602145926
NM_004006.2(DMD):c.10783C>T (p.Gln3595Ter) rs1385794215
NM_004006.2(DMD):c.10797+1G>A rs1060502626
NM_004006.2(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.2(DMD):c.1149+1G>A rs1060502634
NM_004006.2(DMD):c.1261C>T (p.Gln421Ter) rs398123852
NM_004006.2(DMD):c.1292G>A (p.Trp431Ter) rs1556875224
NM_004006.2(DMD):c.1307_1332-7556del
NM_004006.2(DMD):c.1324C>T (p.Gln442Ter) rs863224979
NM_004006.2(DMD):c.1366A>T (p.Lys456Ter) rs1556853298
NM_004006.2(DMD):c.1482+1G>T rs398123862
NM_004006.2(DMD):c.1504C>T (p.Gln502Ter) rs878854618
NM_004006.2(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.2(DMD):c.1619G>A (p.Trp540Ter) rs1569230406
NM_004006.2(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.2(DMD):c.1704+1G>A rs794727123
NM_004006.2(DMD):c.1705-1G>T rs878854619
NM_004006.2(DMD):c.1705-2A>G rs1601809011
NM_004006.2(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.2(DMD):c.186+1G>A rs1557084067
NM_004006.2(DMD):c.1865C>A (p.Ser622Ter) rs886041344
NM_004006.2(DMD):c.187-1G>T rs1603447081
NM_004006.2(DMD):c.1992+1G>T rs1556802319
NM_004006.2(DMD):c.2077C>T (p.Gln693Ter) rs1060502661
NM_004006.2(DMD):c.2168+1G>A rs1057518207
NM_004006.2(DMD):c.2202G>A (p.Trp734Ter) rs1060502636
NM_004006.2(DMD):c.2215G>T (p.Glu739Ter) rs863224985
NM_004006.2(DMD):c.2276T>A (p.Leu759Ter) rs1060502627
NM_004006.2(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.2(DMD):c.2332C>T (p.Gln778Ter) rs398123883
NM_004006.2(DMD):c.2368C>T (p.Gln790Ter) rs762860653
NM_004006.2(DMD):c.2407C>T (p.Gln803Ter) rs863224986
NM_004006.2(DMD):c.251del (p.Leu84fs)
NM_004006.2(DMD):c.2555G>A (p.Trp852Ter) rs1064793964
NM_004006.2(DMD):c.2622+1G>A rs398123901
NM_004006.2(DMD):c.2650C>T (p.Gln884Ter) rs398123903
NM_004006.2(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.2(DMD):c.2704C>T (p.Gln902Ter) rs1603634608
NM_004006.2(DMD):c.2758C>T (p.Gln920Ter)
NM_004006.2(DMD):c.2776C>T (p.Gln926Ter) rs1055371114
NM_004006.2(DMD):c.2804-1G>A rs398123909
NM_004006.2(DMD):c.2804-1G>T rs398123909
NM_004006.2(DMD):c.2804-2A>C rs794727357
NM_004006.2(DMD):c.2869C>T (p.Gln957Ter) rs1603634298
NM_004006.2(DMD):c.2949+1G>A rs1557374482
NM_004006.2(DMD):c.3020C>A (p.Ser1007Ter) rs144732570
NM_004006.2(DMD):c.31+1G>C rs398123923
NM_004006.2(DMD):c.31+1G>T rs398123923
NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter) rs128626245
NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.2(DMD):c.3188G>A (p.Trp1063Ter) rs128626246
NM_004006.2(DMD):c.32-?_93+?dup62
NM_004006.2(DMD):c.3268C>T (p.Gln1090Ter) rs1557369991
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.2(DMD):c.358-1G>A rs886044582
NM_004006.2(DMD):c.358-2A>G rs863224996
NM_004006.2(DMD):c.3580C>T (p.Gln1194Ter) rs398123942
NM_004006.2(DMD):c.3603+3A>T rs1060502615
NM_004006.2(DMD):c.3604-1G>C rs1569562952
NM_004006.2(DMD):c.3679C>T (p.Gln1227Ter) rs1569562941
NM_004006.2(DMD):c.3742C>T (p.Gln1248Ter) rs1569562936
NM_004006.2(DMD):c.3923C>A (p.Ser1308Ter) rs1569562466
NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.2(DMD):c.4071+1G>A rs1060502643
NM_004006.2(DMD):c.4231C>T (p.Gln1411Ter) rs1010666282
NM_004006.2(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.2(DMD):c.4295del (p.Gln1432fs) rs1557322834
NM_004006.2(DMD):c.4314_4315del (p.Arg1439fs) rs398123950
NM_004006.2(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.2(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.2(DMD):c.4433T>G (p.Leu1478Ter) rs1603632312
NM_004006.2(DMD):c.4471_4472del (p.Lys1491fs) rs398123957
NM_004006.2(DMD):c.4483C>T (p.Gln1495Ter) rs748769566
NM_004006.2(DMD):c.4501C>T (p.Gln1501Ter) rs1557322201
NM_004006.2(DMD):c.4518+5G>A rs398123960
NM_004006.2(DMD):c.4618G>T (p.Glu1540Ter) rs1557320151
NM_004006.2(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.2(DMD):c.4858G>T (p.Glu1620Ter) rs1060502645
NM_004006.2(DMD):c.4870C>T (p.Gln1624Ter) rs762250680
NM_004006.2(DMD):c.4902_4908del (p.Gly1635fs)
NM_004006.2(DMD):c.5110G>T (p.Glu1704Ter) rs765445866
NM_004006.2(DMD):c.5140G>T (p.Glu1714Ter) rs886042747
NM_004006.2(DMD):c.5266C>T (p.Gln1756Ter) rs1557303544
NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.2(DMD):c.531-1G>C rs1569526579
NM_004006.2(DMD):c.5344G>T (p.Glu1782Ter) rs886044455
NM_004006.2(DMD):c.547dup (p.Trp183fs) rs796065333
NM_004006.2(DMD):c.5506C>T (p.Gln1836Ter) rs770845480
NM_004006.2(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.2(DMD):c.5602A>T (p.Arg1868Ter) rs1557291229
NM_004006.2(DMD):c.5647A>T (p.Lys1883Ter) rs1060502623
NM_004006.2(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.2(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.2(DMD):c.5867G>A (p.Trp1956Ter) rs1569558906
NM_004006.2(DMD):c.6118-1G>A rs1060502656
NM_004006.2(DMD):c.616C>T (p.Gln206Ter) rs1603432076
NM_004006.2(DMD):c.6251_6290+12981del
NM_004006.2(DMD):c.6283C>T (p.Arg2095Ter) rs398124008
NM_004006.2(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.2(DMD):c.6373C>T (p.Gln2125Ter) rs128626251
NM_004006.2(DMD):c.6408G>A (p.Trp2136Ter) rs1557218131
NM_004006.2(DMD):c.6424A>T (p.Lys2142Ter) rs1557218076
NM_004006.2(DMD):c.650-1827_771del
NM_004006.2(DMD):c.6614+2T>C rs1060502641
NM_004006.2(DMD):c.6615-2A>T rs1557011973
NM_004006.2(DMD):c.686T>G (p.Leu229Ter) rs1556930769
NM_004006.2(DMD):c.6955C>T (p.Gln2319Ter) rs128625230
NM_004006.2(DMD):c.7066C>T (p.Gln2356Ter) rs1603513684
NM_004006.2(DMD):c.7098+1G>T rs1556962223
NM_004006.2(DMD):c.7247T>A (p.Leu2416Ter) rs1569452000
NM_004006.2(DMD):c.7247dup (p.Leu2416fs) rs797044764
NM_004006.2(DMD):c.7252C>T (p.Gln2418Ter) rs1569451994
NM_004006.2(DMD):c.7400T>A (p.Leu2467Ter) rs1254776844
NM_004006.2(DMD):c.7454G>A (p.Trp2485Ter) rs142500746
NM_004006.2(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.2(DMD):c.7661-2A>G rs1556806356
NM_004006.2(DMD):c.7661-?_10921+?del
NM_004006.2(DMD):c.7672C>T (p.Gln2558Ter) rs398124051
NM_004006.2(DMD):c.7817G>A (p.Trp2606Ter) rs863225009
NM_004006.2(DMD):c.8027+1G>A rs1556789913
NM_004006.2(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.2(DMD):c.8064_8065del (p.His2688fs) rs398124060
NM_004006.2(DMD):c.8209C>T (p.Gln2737Ter) rs1060502621
NM_004006.2(DMD):c.831+1G>A rs1239018406
NM_004006.2(DMD):c.831+1G>C rs1239018406
NM_004006.2(DMD):c.831+1G>T rs1239018406
NM_004006.2(DMD):c.8390+1G>A rs1064794569
NM_004006.2(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.2(DMD):c.8655C>A (p.Tyr2885Ter) rs1569546174
NM_004006.2(DMD):c.8656C>T (p.Gln2886Ter) rs201361100
NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.2(DMD):c.8775G>A (p.Trp2925Ter) rs868688877
NM_004006.2(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.2(DMD):c.8881C>T (p.Gln2961Ter) rs1603222095
NM_004006.2(DMD):c.8914C>T (p.Gln2972Ter) rs1060502633
NM_004006.2(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.2(DMD):c.9094G>T (p.Glu3032Ter) rs72466562
NM_004006.2(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.2(DMD):c.9183G>A (p.Trp3061Ter) rs1556503937
NM_004006.2(DMD):c.918T>A (p.Tyr306Ter) rs149106712
NM_004006.2(DMD):c.9197C>A (p.Ser3066Ter) rs128626254
NM_004006.2(DMD):c.9224+1G>A rs1569526122
NM_004006.2(DMD):c.93+1G>A rs886042604
NM_004006.2(DMD):c.9361+1G>A rs398124094
NM_004006.2(DMD):c.94-?_4233+?del
NM_004006.2(DMD):c.9434del (p.Met3145fs) rs1060502648
NM_004006.2(DMD):c.9563+1G>A rs886043989
NM_004006.2(DMD):c.9563+2T>A rs1602727611
NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.2(DMD):c.9621T>A (p.Cys3207Ter) rs1057524037
NM_004006.2(DMD):c.9649+1G>A rs1556256329
NM_004006.2(DMD):c.9928C>T (p.Gln3310Ter) rs104894789
NM_004006.2(DMD):c.9975-1G>A rs1556040444
NM_004006.2(DMD):c.9975-2A>C rs886044502
NM_004006.2(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3(DMD):c.10224-175_10238del
NM_004006.3(DMD):c.10227del (p.Val3410fs)
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
NM_004006.3(DMD):c.10297dup (p.Thr3433fs)
NM_004006.3(DMD):c.10797+2T>A
NM_004006.3(DMD):c.10813A>T (p.Lys3605Ter)
NM_004006.3(DMD):c.1238C>A (p.Ser413Ter)
NM_004006.3(DMD):c.1294_1295dup (p.Cys433fs)
NM_004006.3(DMD):c.1323dup (p.Gln442fs) rs1602459252
NM_004006.3(DMD):c.1357C>T (p.Gln453Ter)
NM_004006.3(DMD):c.1703del (p.Gln568fs)
NM_004006.3(DMD):c.178del (p.Gln60fs)
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)
NM_004006.3(DMD):c.183dup (p.Leu62fs)
NM_004006.3(DMD):c.1855A>T (p.Lys619Ter)
NM_004006.3(DMD):c.187-2A>G
NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)
NM_004006.3(DMD):c.2253del (p.Lys752fs)
NM_004006.3(DMD):c.2439del (p.Ile813fs)
NM_004006.3(DMD):c.2440G>T (p.Glu814Ter)
NM_004006.3(DMD):c.2508dup (p.Asn837Ter)
NM_004006.3(DMD):c.2546del (p.Ala849fs)
NM_004006.3(DMD):c.2617dup (p.Cys873fs)
NM_004006.3(DMD):c.2804-1G>C
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
NM_004006.3(DMD):c.29_30del (p.Cys10fs)
NM_004006.3(DMD):c.3008_3009del (p.Val1003fs)
NM_004006.3(DMD):c.321dup (p.Leu108fs)
NM_004006.3(DMD):c.3347del (p.Lys1116fs)
NM_004006.3(DMD):c.3603+2T>C
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3630del (p.Glu1211fs)
NM_004006.3(DMD):c.38_39GA[1] (p.Glu14fs) rs1060502652
NM_004006.3(DMD):c.3921+1_3921+2dup
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.402_408dup (p.Glu137delinsGlnGlnTer)
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)
NM_004006.3(DMD):c.4600C>T (p.Gln1534Ter)
NM_004006.3(DMD):c.488G>A (p.Trp163Ter)
NM_004006.3(DMD):c.4897G>T (p.Glu1633Ter)
NM_004006.3(DMD):c.4903G>T (p.Gly1635Ter)
NM_004006.3(DMD):c.4914_4915del (p.Lys1639fs)
NM_004006.3(DMD):c.5452G>T (p.Glu1818Ter)
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
NM_004006.3(DMD):c.5704_5707del (p.Ser1902fs)
NM_004006.3(DMD):c.6203del (p.Pro2068fs)
NM_004006.3(DMD):c.6290+2T>A
NM_004006.3(DMD):c.6423C>G (p.Tyr2141Ter)
NM_004006.3(DMD):c.6474del (p.Val2159fs)
NM_004006.3(DMD):c.6611del (p.Lys2204fs)
NM_004006.3(DMD):c.6622G>T (p.Glu2208Ter)
NM_004006.3(DMD):c.6629del (p.Lys2210fs)
NM_004006.3(DMD):c.6704del (p.Ser2235fs)
NM_004006.3(DMD):c.6901C>T (p.Gln2301Ter)
NM_004006.3(DMD):c.7179dup (p.Pro2394fs)
NM_004006.3(DMD):c.7378G>T (p.Glu2460Ter)
NM_004006.3(DMD):c.7577dup (p.Leu2527fs)
NM_004006.3(DMD):c.7661-1G>A
NM_004006.3(DMD):c.7720C>T (p.Gln2574Ter)
NM_004006.3(DMD):c.7736T>A (p.Leu2579Ter)
NM_004006.3(DMD):c.7852A>T (p.Lys2618Ter)
NM_004006.3(DMD):c.8214G>A (p.Trp2738Ter)
NM_004006.3(DMD):c.8395del (p.His2799fs)
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
NM_004006.3(DMD):c.8626C>T (p.Gln2876Ter)
NM_004006.3(DMD):c.8666_8668+3del
NM_004006.3(DMD):c.8821G>T (p.Glu2941Ter)
NM_004006.3(DMD):c.88del (p.Ser30fs)
NM_004006.3(DMD):c.8908_8909TC[2] (p.Leu2971fs) rs398124078
NM_004006.3(DMD):c.8912_8913dup (p.Gln2972fs)
NM_004006.3(DMD):c.9219_9222del (p.Tyr3072_Tyr3073insTer)
NM_004006.3(DMD):c.9432del (p.Met3145fs)
NM_004006.3(DMD):c.976G>T (p.Glu326Ter)
NM_004006.3(DMD):c.9852G>A (p.Trp3284Ter)
NM_004006.3(DMD):c.9868C>T (p.Gln3290Ter)
NM_004006.3(DMD):c.9897_9898del (p.His3299fs)
NM_004010.3(DMD):c.-132dup rs1557079469
NM_004010.3(DMD):c.-14del rs1557058308
NM_004010.3(DMD):c.-217dup rs1557084128
NM_004010.3(DMD):c.-229dup rs1569533965
NM_004010.3(DMD):c.-336_-332del rs1602766725
NM_004010.3(DMD):c.-76_-64del rs1603441550
NM_004011.4(DMD):c.973C>T (p.Arg325Ter) rs398123973
NM_004013.2(DMD):c.-113del rs1556917057
NM_004013.2(DMD):c.-140_-138delinsGTTT rs1064792967
NM_004013.2(DMD):c.-313_-312del rs1060502659
NM_004013.2(DMD):c.-333_-324del rs1603513697
NM_004013.2(DMD):c.-395del rs398124040
NM_004013.2(DMD):c.-719del rs1060502620
NM_004013.2(DMD):c.-770dup rs863225007
NM_004020.3(DMD):c.2843+6294del rs1556028034
Single allele

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