ClinVar Miner

List of variants in gene DMD reported as likely benign by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004006.3(DMD):c.9225-5795G>A rs138287985 0.00025
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser) rs200213555 0.00010
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
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.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.94-9dup rs3834997

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