ClinVar Miner

List of variants reported as pathogenic for Duchenne muscular dystrophy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10223+1G>A rs398123834
NM_004006.3(DMD):c.10453_10454del (p.Leu3485fs) rs398123838
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter) rs398123853
NM_004006.3(DMD):c.1482+1G>T rs398123862
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.1726del (p.Ser576fs)
NM_004006.3(DMD):c.265-1G>A rs2148850769
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter) rs727503850
NM_004006.3(DMD):c.2758C>T (p.Gln920Ter) rs398123905
NM_004006.3(DMD):c.2787_2788del (p.Lys930fs)
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter) rs1603634298
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter) rs767387334
NM_004006.3(DMD):c.2949+1G>A rs1557374482
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter) rs1603634206
NM_004006.3(DMD):c.3277-1G>A
NM_004006.3(DMD):c.3603+3A>T rs1060502615
NM_004006.3(DMD):c.3622C>T (p.Gln1208Ter) rs2148289012
NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter) rs1569562933
NM_004006.3(DMD):c.4290_4291del (p.His1430fs) rs1557322838
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.434G>C (p.Arg145Pro) rs398123952
NM_004006.3(DMD):c.4363dup (p.Ser1455fs)
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs) rs1064793479
NM_004006.3(DMD):c.457C>T (p.Gln153Ter) rs886042983
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs) rs398123979
NM_004006.3(DMD):c.5326_5333del (p.Ala1776fs)
NM_004006.3(DMD):c.5358del (p.Phe1786fs) rs1603631368
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter) rs1569559097
NM_004006.3(DMD):c.5602dup (p.Arg1868fs)
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter) rs863225004
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter) rs398123997
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.3(DMD):c.6382A>T (p.Arg2128Ter)
NM_004006.3(DMD):c.709del (p.Gln237fs) rs1603150993
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004006.3(DMD):c.71G>A (p.Trp24Ter) rs2147755143
NM_004006.3(DMD):c.7310-1G>A rs1556880354
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.811C>T (p.Gln271Ter) rs2063890662
NM_004006.3(DMD):c.8218-2A>G rs886039478
NM_004006.3(DMD):c.826C>T (p.Gln276Ter) rs2147603245
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.903C>A (p.Tyr301Ter) rs2147581521
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter) rs1556503937
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.9563+1215A>G
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9600_9601del (p.Lys3200fs)
NM_004006.3(DMD):c.9619_9626del (p.Cys3207fs)
NM_004006.3(DMD):c.9807+1G>C rs1569460610
NM_004006.3(DMD):c.9913G>T (p.Glu3305Ter) rs2148334279

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