ClinVar Miner

List of variants in gene DMD reported as likely pathogenic by Institute of Human Genetics, University of Wuerzburg

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Total variants: 13
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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.1812+601A>G rs1603636710
NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs) rs2148460005
NM_004006.3(DMD):c.3276+2T>C
NM_004006.3(DMD):c.4071+1del rs1114167439
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
NM_004006.3(DMD):c.5060del (p.Asn1687fs)
NM_004006.3(DMD):c.5155-719_5155-31del
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.9225-1G>C
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly) rs886044916

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