ClinVar Miner

List of variants in gene DMD reported as uncertain significance for DMD-related disorder

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) rs747239076 0.00005
NM_004006.3(DMD):c.5390T>C (p.Leu1797Pro) rs750303298 0.00002
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly) rs747374618 0.00001
NM_004006.3(DMD):c.4328A>G (p.Gln1443Arg) rs749903671 0.00001
NM_004006.3(DMD):c.839T>A (p.Val280Asp) rs1160682035 0.00001
NM_004006.3(DMD):c.10223+4A>G rs2148290215
NM_004006.3(DMD):c.10271C>T (p.Ser3424Leu) rs1339174553
NM_004006.3(DMD):c.10981G>A (p.Glu3661Lys)
NM_004006.3(DMD):c.11002C>T (p.Pro3668Ser)
NM_004006.3(DMD):c.1259T>A (p.Val420Glu)
NM_004006.3(DMD):c.2114C>A (p.Pro705Gln)
NM_004006.3(DMD):c.2282_2287del (p.Glu761_Lys762del)
NM_004006.3(DMD):c.2666G>T (p.Arg889Leu) rs779579811
NM_004006.3(DMD):c.2788A>G (p.Lys930Glu)
NM_004006.3(DMD):c.2925G>A (p.Met975Ile)
NM_004006.3(DMD):c.4774A>G (p.Met1592Val)
NM_004006.3(DMD):c.4831G>A (p.Val1611Ile)
NM_004006.3(DMD):c.4876G>T (p.Val1626Leu)
NM_004006.3(DMD):c.803T>C (p.Leu268Ser) rs939491009
NM_004006.3(DMD):c.80C>A (p.Ala27Glu) rs763407275
NM_004006.3(DMD):c.874C>T (p.Pro292Ser)
NM_004006.3(DMD):c.8942T>C (p.Leu2981Pro) rs1569542830
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985
NM_004006.3(DMD):c.9817_9819del (p.Lys3273del)

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