ClinVar Miner

List of variants in gene DMD reported as uncertain significance by Blueprint Genetics

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys) rs760516307 0.00005
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp) rs373475448 0.00004
NM_004006.3(DMD):c.2628A>T (p.Glu876Asp) rs869025382 0.00001
NM_004006.3(DMD):c.514C>G (p.Leu172Val) rs747353479 0.00001
NM_004006.3(DMD):c.3163-3C>A rs778622512
NM_004006.3(DMD):c.4784C>A (p.Thr1595Lys) rs869025383
NM_004006.3(DMD):c.531-11_531-6del rs758404687
NM_004006.3(DMD):c.6118-3C>A rs730880074
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083

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