ClinVar Miner

List of variants reported as pathogenic for Duchenne muscular dystrophy by Athena Diagnostics Inc

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ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_000109.4(DMD):c.5326G>T (p.Glu1776Ter) rs777864641
NM_000109.4(DMD):c.8944_8945GA[1] (p.Asn2983fs) rs863225014
NM_000109.4(DMD):c.9176_9179CAAA[1] (p.Asn3060fs) rs863225015
NM_004006.2(DMD):c.10133del (p.Asn3378fs) rs863224975
NM_004006.2(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.2(DMD):c.10223+1G>C rs398123834
NM_004006.2(DMD):c.10412T>G (p.Leu3471Ter) rs863224976
NM_004006.2(DMD):c.10504G>T (p.Glu3502Ter) rs863224977
NM_004006.2(DMD):c.1150-2del rs863224978
NM_004006.2(DMD):c.1324C>T (p.Gln442Ter) rs863224979
NM_004006.2(DMD):c.1331+1G>A rs863224980
NM_004006.2(DMD):c.1388G>A (p.Trp463Ter) rs863224981
NM_004006.2(DMD):c.1483-1G>C rs863224982
NM_004006.2(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.2(DMD):c.1663C>T (p.Gln555Ter) rs863224983
NM_004006.2(DMD):c.1683G>A (p.Trp561Ter) rs863224984
NM_004006.2(DMD):c.2215G>T (p.Glu739Ter) rs863224985
NM_004006.2(DMD):c.2368C>T (p.Gln790Ter) rs762860653
NM_004006.2(DMD):c.2407C>T (p.Gln803Ter) rs863224986
NM_004006.2(DMD):c.2611A>T (p.Lys871Ter) rs863224987
NM_004006.2(DMD):c.2623-3C>G rs863224988
NM_004006.2(DMD):c.265-2A>G rs863224989
NM_004006.2(DMD):c.2797C>T (p.Gln933Ter) rs756949497
NM_004006.2(DMD):c.2804-2A>C rs794727357
NM_004006.2(DMD):c.280del (p.Ile94fs) rs863224990
NM_004006.2(DMD):c.282dup (p.Gly95fs) rs863224991
NM_004006.2(DMD):c.2991C>G (p.Tyr997Ter) rs863224992
NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.2(DMD):c.3427C>T (p.Gln1143Ter) rs863224993
NM_004006.2(DMD):c.3432+1G>A rs398123937
NM_004006.2(DMD):c.3433-5_3434del rs863224994
NM_004006.2(DMD):c.355C>T (p.Gln119Ter) rs863224995
NM_004006.2(DMD):c.358-2A>G rs863224996
NM_004006.2(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.2(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.2(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.2(DMD):c.4606G>T (p.Glu1536Ter) rs863224998
NM_004006.2(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.2(DMD):c.4918del (p.Thr1640fs) rs863225000
NM_004006.2(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.2(DMD):c.5461G>T (p.Glu1821Ter) rs863225002
NM_004006.2(DMD):c.5551C>T (p.Gln1851Ter) rs128625228
NM_004006.2(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.2(DMD):c.5641C>T (p.Gln1881Ter) rs863225004
NM_004006.2(DMD):c.5773G>T (p.Glu1925Ter) rs398123997
NM_004006.2(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.2(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.2(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.2(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.2(DMD):c.7105G>T (p.Glu2369Ter) rs863225008
NM_004006.2(DMD):c.7755G>A (p.Trp2585Ter) rs762394978
NM_004006.2(DMD):c.7817G>A (p.Trp2606Ter) rs863225009
NM_004006.2(DMD):c.8027+2T>A rs863225010
NM_004006.2(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.2(DMD):c.8390+2T>C rs863225013
NM_004006.2(DMD):c.8443C>T (p.Gln2815Ter) rs398124072
NM_004006.2(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.2(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.2(DMD):c.9551dup (p.Asn3184fs) rs863225017
NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.2(DMD):c.9938_9941dup (p.Asn3314delinsLysTer) rs863225018
NM_004013.2(DMD):c.-395dup rs398124040
NM_004013.2(DMD):c.-770dup rs863225007
NM_004020.3(DMD):c.2843+9127del rs398123839

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