ClinVar Miner

List of variants in gene DMD reported as likely 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: 54
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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.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NC_000023.10:g.(31144791_31152218)_(31165636_31187559)dup
NC_000023.10:g.(31196923_31198486)_(31198599_31200854)dup
NC_000023.10:g.(31241239_31279071)_(31462745_31496222)dup
NC_000023.10:g.(31366752_31462597)_(31497221_31514904)del
NC_000023.10:g.(31366752_31462597)_(31645980_31676106)dup
NC_000023.10:g.(31462745_31496222)_(31525571_31645789)dup
NC_000023.10:g.(31496492_31497099)_(31854937_31893304)del
NC_000023.10:g.(31525571_31645789)_(31645980_31676106)dup
NC_000023.10:g.(31525571_31645789)_(32383317_32398626)dup
NC_000023.10:g.(31525571_31645789)_(32867938_33038255)del
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)dup
NC_000023.10:g.(31854937_31893304)_(32235181_32305645)dup
NC_000023.10:g.(31854937_31893304)_(32305819_32328198)del
NC_000023.10:g.(31947863_31950196)_(31950345_31986455)dup
NC_000023.10:g.(32235181_32305645)_(32305819_32328198)dup
NC_000023.10:g.(32235181_32305645)_(32563452_32583818)dup
NC_000023.10:g.(32305819_32328198)_(32364198_32366522)del
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)del
NC_000023.10:g.(32328394_32360216)_(32398798_32404426)dup
NC_000023.10:g.(32328394_32360216)_(32408299_32429868)del
NC_000023.10:g.(32381076_32382698)_(32663270_32715986)del
NC_000023.10:g.(32408299_32429868)_(32827729_32834584)dup
NC_000023.10:g.(32430031_32456357)_(32519960_32536124)del
NC_000023.10:g.(32459432_32466572)_(32503217_32509393)del
NC_000023.10:g.(32663270_32715986)_(32716116_32717228)del
NC_000023.10:g.(32717411_32827609)_(33229674_?)dup
NC_000023.10:g.(32834758_32841411)_(33038318_33229398)del
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)del
NM_004006.3(DMD):c.10224-2_10233delinsTG rs2148280427
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.1956del (p.Asp652fs) rs886043640
NM_004006.3(DMD):c.2168+2T>C
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn) rs2148630194
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.3037G>T (p.Glu1013Ter)
NM_004006.3(DMD):c.3939_3940delinsCT (p.Met1313_Arg1314delinsIleTer)
NM_004006.3(DMD):c.4351_4352insA (p.Leu1451fs) rs2097987198
NM_004006.3(DMD):c.4500del (p.Gln1501fs) rs398123959
NM_004006.3(DMD):c.4846-1G>C rs1603631757
NM_004006.3(DMD):c.5008_5025+7del
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs) rs2147253222
NM_004006.3(DMD):c.5448+1G>T rs1064796764
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter) rs140913030
NM_004006.3(DMD):c.6474del (p.Val2159fs) rs2095370524
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter) rs2094828872
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter) rs770183212
NM_004006.3(DMD):c.7395del (p.Met2466fs) rs2149245252
NM_004006.3(DMD):c.8027+2T>A rs863225010
NM_004006.3(DMD):c.8196del (p.Glu2733fs) rs1556764753
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs) rs2068038543
NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter) rs2044442536
NM_004017.3(DMD):c.1019+700_1019+704del rs2148280593

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