ClinVar Miner

List of variants in gene DMD reported by Centro de Genética y Biología Molecular, Universidad de San Martín de Porres

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10409del (p.Leu3470fs) rs2039782181
NM_004006.3(DMD):c.131dup (p.Gln45fs) rs2080984178
NM_004006.3(DMD):c.1672del (p.Leu558fs) rs2052703269
NM_004006.3(DMD):c.2348C>G (p.Ser783Ter) rs2044079791
NM_004006.3(DMD):c.2945T>A (p.Leu982Ter) rs2040710629
NM_004006.3(DMD):c.3490A>T (p.Lys1164Ter) rs2098349160
NM_004006.3(DMD):c.44del (p.Asp15fs) rs2093886453
NM_004006.3(DMD):c.4675-1G>A rs2097921115
NM_004006.3(DMD):c.4840G>T (p.Gly1614Ter) rs2097920506
NM_004006.3(DMD):c.5812G>T (p.Glu1938Ter) rs2097747311
NM_004006.3(DMD):c.6253del (p.Trp2085fs) rs2097447453
NM_004006.3(DMD):c.7618_7619del (p.Lys2540fs) rs2086354048
NM_004006.3(DMD):c.7768G>T (p.Glu2590Ter) rs2082258116
NM_004006.3(DMD):c.803del (p.Leu268fs) rs2063891560

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