ClinVar Miner

List of variants in gene DMD reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NC_000023.10:g.(31279134_31341714)_(31341776_31366672)dup
NC_000023.10:g.(31366752_31462597)_(31838201_31854834)dup
NC_000023.10:g.(31525571_31645789)_(31838201_31854834)dup
NC_000023.10:g.(31525571_31645789)_(31854937_31893304)del
NC_000023.10:g.(31525571_31645789)_(31893491_31947712)del
NC_000023.10:g.(31525571_31645789)_(31986632_32235032)dup
NC_000023.10:g.(31645980_31676106)_(31747866_31792076)del
NC_000023.10:g.(31645980_31676106)_(31950345_31986455)del
NC_000023.10:g.(31645980_31676106)_(31986632_32235032)del
NC_000023.10:g.(31676262_31697491)_(31854937_31893304)del
NC_000023.10:g.(31676262_31697491)_(31986632_32235032)del
NC_000023.10:g.(31697704_31747747)_(31747866_31792076)del
NC_000023.10:g.(31697704_31747747)_(31854937_31893304)del
NC_000023.10:g.(31697704_31747747)_(31893491_31947712)del
NC_000023.10:g.(31697704_31747747)_(31986632_32235032)del
NC_000023.10:g.(31747866_31792076)_(31947863_31950196)del
NC_000023.10:g.(31747866_31792076)_(31950345_31986455)del
NC_000023.10:g.(31747866_31792076)_(32430031_32456357)del
NC_000023.10:g.(31792310_31838091)_(31854937_31893304)dup
NC_000023.10:g.(31792310_31838091)_(31893491_31947712)del
NC_000023.10:g.(31792310_31838091)_(31947863_31950196)del
NC_000023.10:g.(31792310_31838091)_(31986632_32235032)del
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)del
NC_000023.10:g.(31838201_31854834)_(31950345_31986455)dup
NC_000023.10:g.(31838201_31854834)_(31986632_32235032)dup
NC_000023.10:g.(31854937_31893304)_(31950345_31986455)del
NC_000023.10:g.(31854937_31893304)_(31986632_32235032)del
NC_000023.10:g.(31893491_31947712)_(31950345_31986455)del
NC_000023.10:g.(31893491_31947712)_(32305819_32328198)del
NC_000023.10:g.(31986632_32235032)_(32383317_32398626)del
NC_000023.10:g.(31986632_32235032)_(32519960_32536124)dup
NC_000023.10:g.(31986632_32235032)_(33038318_33229398)dup
NC_000023.10:g.(32235181_32305645)_(32383317_32398626)del
NC_000023.10:g.(32235181_32305645)_(32490427_32503035)del
NC_000023.10:g.(32328394_32360216)_(32536249_32563275)del
NC_000023.10:g.(32398798_32404426)_(32717411_32827609)del
NC_000023.10:g.(32408299_32429868)_(32536249_32563275)dup
NC_000023.10:g.(32408299_32429868)_(33038318_33229398)del
NC_000023.10:g.(32430031_32456357)_(32563452_32583818)del
NC_000023.10:g.(32486828_32490280)_(32490427_32503035)dup
NC_000023.10:g.(32509636_32519871)_(32717411_32827609)del
NC_000023.10:g.(32519960_32536124)_(32862978_32867844)del
NC_000023.10:g.(32519960_32536124)_(33229674_?)del
NC_000023.10:g.(32536249_32563275)_(32563452_32583818)dup
NC_000023.10:g.(32536249_32563275)_(32834758_32841411)del
NC_000023.10:g.(32591964_32613873)_(32632571_32662248)dup
NC_000023.10:g.(32613994_32632419)_(32632571_32662248)dup
NC_000023.10:g.(32632571_32662248)_(32663270_32715986)dup
NC_000023.10:g.(32632571_32662248)_(32717411_32827609)del
NC_000023.10:g.(32632571_32662248)_(32867938_33038255)del
NC_000023.10:g.(32662431_32663080)_(32663270_32715986)del
NC_000023.10:g.(32663270_32715986)_(32717411_32827609)del
NC_000023.10:g.(32663270_32715986)_(32867938_33038255)del
NC_000023.10:g.(32717411_32827609)_(32827729_32834584)dup
NC_000023.10:g.(32717411_32827609)_(32867938_33038255)del
NC_000023.10:g.(32827729_32834584)_(32867938_33038255)del
NC_000023.10:g.(32841505_32862899)_(32867938_33038255)del
NC_000023.10:g.(32862978_32867844)_(32867938_33038255)dup
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)dup
NC_000023.11:g.(31147519_31169442)_(31658145_31679374)dup
NC_000023.11:g.(31496945_31507280)_(31507454_31627672)del
NC_000023.11:g.(31507454_31627672)_(31729749_31773959)del
NC_000023.11:g.(31507454_31627672)_(31968515_32216915)del
NC_000023.11:g.(31627863_31657989)_(31836820_31875187)del
NC_000023.11:g.(31679587_31729630)_(31774193_31819974)del
NC_000023.11:g.(31679587_31729630)_(31968515_32216915)dup
NC_000023.11:g.(31729749_31773959)_(31774193_31819974)del
NC_000023.11:g.(31729749_31773959)_(31836820_31875187)del
NC_000023.11:g.(31729749_31773959)_(31875374_31929595)del
NC_000023.11:g.(31729749_31773959)_(31968515_32216915)del
NC_000023.11:g.(31774193_31819974)_(31820084_31836717)del
NC_000023.11:g.(31774193_31819974)_(31836820_31875187)del
NC_000023.11:g.(31820084_31836717)_(31836820_31875187)del
NC_000023.11:g.(31836820_31875187)_(31875374_31929595)del
NC_000023.11:g.(31875374_31929595)_(31929746_31932079)del
NC_000023.11:g.(31875374_31929595)_(31968515_32216915)del
NC_000023.11:g.(31932228_31968338)_(32699294_32809492)del
NC_000023.11:g.(31968515_32216915)_(32217064_32287528)del
NC_000023.11:g.(32217064_32287528)_(32310277_32342099)del
NC_000023.11:g.(32491519_32501754)_(32573847_32595756)del
NC_000023.11:g.(32614454_32644131)_(32645153_32697869)del
NM_004006.2:c.(6438+1_6439-1)_(6614+1_6615-1)del
NM_004006.3(DMD):c.10223+1G>A rs398123834
NM_004006.3(DMD):c.1267C>T (p.Gln423Ter) rs2146819649
NM_004006.3(DMD):c.1544_1545dup (p.Val516fs)
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter) rs763936813
NM_004006.3(DMD):c.1713dup (p.Ser572Ter) rs1601808932
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.2512C>T (p.Gln838Ter) rs886042351
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter) rs1064793964
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.2804-2A>C rs794727357
NM_004006.3(DMD):c.2833_2860dup (p.Trp954fs)
NM_004006.3(DMD):c.3103C>T (p.Gln1035Ter) rs753006232
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3369dup (p.Ala1124fs)
NM_004006.3(DMD):c.3396dup (p.Glu1133fs)
NM_004006.3(DMD):c.3794G>A (p.Trp1265Ter)
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
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.5428G>T (p.Glu1810Ter)
NM_004006.3(DMD):c.549del (p.Asp182_Trp183insTer)
NM_004006.3(DMD):c.5771_5772del (p.Glu1924fs)
NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter) rs1557218131
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter) rs1569186252
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9184del (p.Glu3062fs) rs2148297268
NM_004006.3(DMD):c.9225-647A>G rs398124091
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.958C>T (p.Gln320Ter)
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853

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