ClinVar Miner

List of variants in gene DMD studied for Elevated circulating creatine kinase concentration

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.32644161_32644191delins32644164_32644199inv
NM_004006.3(DMD):c.10211del (p.Asp3404fs) rs1114167437
NM_004006.3(DMD):c.1509del (p.Glu503fs) rs2055460202
NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs) rs2148460005
NM_004006.3(DMD):c.3433-1G>A rs398123939
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.4071+1del rs1114167439
NM_004006.3(DMD):c.4883T>C (p.Leu1628Pro) rs2147260898
NM_004006.3(DMD):c.5449-2A>T
NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter) rs1057516028
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly) rs886044916
NM_004006.3(DMD):c.9974+1G>C

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