ClinVar Miner

List of variants studied for Duchenne muscular dystrophy by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_004006.2(DMD):c.10098_10100AGA[1] (p.Glu3367del) rs886042840
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.2(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.2(DMD):c.630del (p.Lys211fs) rs1557047827
NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.2(DMD):c.7310-1G>A rs1556880354
NM_004006.2(DMD):c.9854_9863del (p.Met3285fs) rs398124105

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