ClinVar Miner

List of variants in gene DMD reported by Clinical Genetics, Academic Medical Center

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_004006.3(DMD):c.3603+15del rs5902031
NM_004006.3(DMD):c.3603+3_3603+4dup rs5902031
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.94-9dup rs3834997

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