ClinVar Miner

List of variants in gene DMD reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_004006.3(DMD):c.2824A>G (p.Met942Val) rs371648742 0.00042
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_004006.3(DMD):c.7323T>C (p.Thr2441=) rs201919981 0.00010
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val) rs751145927 0.00008
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.3419A>T (p.His1140Leu) rs201297190 0.00005
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys) rs765207227 0.00002
NM_004006.3(DMD):c.8374A>G (p.Lys2792Glu) rs794727766 0.00002
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.1603G>A (p.Val535Ile) rs2052711854
NM_004006.3(DMD):c.4082G>A (p.Arg1361Lys) rs753639717
NM_004006.3(DMD):c.4428G>T (p.Met1476Ile) rs745757372
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985

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