ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
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
NC_000023.10:g.(?_28807451)_(31201031_?)del
NC_000023.10:g.(?_31187540)_(31366771_?)dup
NC_000023.10:g.(?_31187540)_(31382270_?)dup
NC_000023.10:g.(?_31191636)_(31526374_?)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.(?_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)_(31986651_?)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.(?_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)_(31986651_?)dup
NC_000023.10:g.(?_31613687)_31986641dup
NC_000023.10:g.(?_31676087)_(31747885_?)dup
NC_000023.10:g.(?_31747827)_(31806244_?)del
NC_000023.10:g.(?_31785365)_(31792122_?)del
NC_000023.10:g.(?_31792306)_(31846389_?)del
NC_000023.10:g.(?_31838072)_(31893510_?)dup
NC_000023.10:g.(?_31838072)_(31983146_?)dup
NC_000023.10:g.(?_31838072)_(32563471_?)dup
NC_000023.10:g.(?_31854825)_(31893500_?)dup
NC_000023.10:g.(?_31854910)_(31872176_?)del
NC_000023.10:g.(?_31893295)_(31986641_?)dup
NC_000023.10:g.(?_31947703)_(32717420_?)dup
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.(?_32235013)_(32519979_?)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.(?_32380885)_(32756908_?)dup
NC_000023.10:g.(?_32382679)_(32490446_?)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.(?_32472769)_(32536267_?)dup
NC_000023.10:g.(?_32482693)_(33038327_?)dup
NC_000023.10:g.(?_32486595)_(32490446_?)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)_(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.(?_32536115)_(32632580_?)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.(?_32715967)_(32827748_?)dup
NC_000023.10:g.(?_32715967)_(32867957_?)dup
NC_000023.10:g.(?_32715977)_(32716130_?)del
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.(?_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.(?_31773940)_(32849840_?)del
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)_(32651077_?)del
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.6439-10_8217+32103dup
NM_004006.2(DMD):c.7309+12789_7490del
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.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.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.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1993-1G>A
NM_004006.3(DMD):c.1993-2A>G
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn) rs2148630194
NM_004006.3(DMD):c.2870A>C (p.Gln957Pro) rs2148485378
NM_004006.3(DMD):c.3162+1G>A rs1335666832
NM_004006.3(DMD):c.323T>C (p.Leu108Pro) rs1557058350
NM_004006.3(DMD):c.3276+1G>A rs398123934
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3414_3432+3del rs2148418008
NM_004006.3(DMD):c.3430C>T (p.Gln1144Ter) rs2148418069
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.3921+2T>C
NM_004006.3(DMD):c.3922-1G>A
NM_004006.3(DMD):c.4072-1G>T rs1060502637
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.4518G>A (p.Val1506=) rs1557322177
NM_004006.3(DMD):c.4675-11A>G rs1557316295
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.4846-1G>C rs1603631757
NM_004006.3(DMD):c.4846-1G>T rs1603631757
NM_004006.3(DMD):c.5025+1del
NM_004006.3(DMD):c.5026-2A>G rs1569559849
NM_004006.3(DMD):c.5154+2T>C rs1569559822
NM_004006.3(DMD):c.5155-1G>T rs1220757614
NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly) rs2147063753
NM_004006.3(DMD):c.5738_5739+4del rs2146989498
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.6290+5G>A rs886043467
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
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.6614+3310G>T rs797045526
NM_004006.3(DMD):c.6614G>T (p.Arg2205Met) rs1603618489
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.7201-1G>C
NM_004006.3(DMD):c.7201-398_7215del rs2149424713
NM_004006.3(DMD):c.7348_7542+748delinsTCACCA
NM_004006.3(DMD):c.7543-2A>G rs2149018666
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.799_831+12del
NM_004006.3(DMD):c.8028-501_8078del
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.8547+1G>A rs1556665052
NM_004006.3(DMD):c.8937+1G>A
NM_004006.3(DMD):c.8938-3C>G rs398124079
NM_004006.3(DMD):c.9084+2T>C
NM_004006.3(DMD):c.9163+2T>C rs1556539065
NM_004006.3(DMD):c.9224+5G>C rs1556503812
NM_004006.3(DMD):c.9286+2T>G
NM_004006.3(DMD):c.9287-27_9287-2del rs1064792968
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.9563+5G>C rs764119686
NM_004006.3(DMD):c.9564-1G>A rs398124096
NM_004006.3(DMD):c.9650-4_9655del rs1060502653
NM_004006.3(DMD):c.9807+2T>G rs2043792360
NM_004006.3(DMD):c.9807+5G>A rs1569460607
NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe) rs886043597

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