ClinVar Miner

List of variants reported as pathogenic for Duchenne muscular dystrophy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.4354C>T (p.Gln1452Ter) rs2147613652
NM_004006.3(DMD):c.8028-1G>T rs2148423696
NM_004006.3(DMD):c.8224C>T (p.Gln2742Ter) rs2147177872
NM_004006.3(DMD):c.9060del (p.Asn3021fs)
NM_004006.3(DMD):c.9975-1G>T rs1556040444

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