ClinVar Miner

List of variants in gene DMD reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
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.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
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.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
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.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004006.3(DMD):c.8027+7A>T rs72466580 0.00013
NM_004006.3(DMD):c.3432+10A>G rs746260475 0.00010
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser) rs200213555 0.00010
NM_004006.3(DMD):c.4877T>A (p.Val1626Glu) rs72468634 0.00010
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His) rs766981643 0.00003
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp) rs770572107 0.00002
NM_004006.3(DMD):c.6068T>G (p.Leu2023Arg) rs1060502662 0.00002
NM_004006.3(DMD):c.2163G>A (p.Arg721=) rs2048850262 0.00001
NM_004006.3(DMD):c.9523G>A (p.Val3175Met) rs1332708845 0.00001
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612

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