ClinVar Miner

List of variants in gene DMD reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Gene type:
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Total variants: 49
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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.1635A>G (p.Arg545=) rs5927083 0.12751
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
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.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
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.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.7542+13A>G rs72466585 0.00407
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.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004006.3(DMD):c.3163-18T>C rs72468662 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.9225-5795G>A rs138287985 0.00025
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
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.4877T>A (p.Val1626Glu) rs72468634 0.00010
NM_004006.3(DMD):c.8027+13T>G rs772027445 0.00009
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
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.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004006.3(DMD):c.3937A>G (p.Met1313Val) rs794729003 0.00001
NM_004006.3(DMD):c.9291C>T (p.Asp3097=) rs796934165 0.00001
NM_004006.3(DMD):c.2168+11C>G rs376214348
NM_004006.3(DMD):c.3603+15del rs5902031
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612

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