ClinVar Miner

List of variants in gene DMD reported as pathogenic by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.2954T>A (p.Leu985Ter) rs398123916 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter) rs398124008 0.00001
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10086+1G>A rs398123828
NM_004006.3(DMD):c.10086+2T>C rs2148310866
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10177_10180del (p.Gly3393fs) rs2148290914
NM_004006.3(DMD):c.10223+1G>A rs398123834
NM_004006.3(DMD):c.10256_10259del (p.Asp3419fs) rs2148279831
NM_004006.3(DMD):c.10263-2_10264dup rs2148227605
NM_004006.3(DMD):c.103C>T (p.Gln35Ter) rs2149015656
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer) rs886043375
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter) rs1602145926
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1149+2T>C rs2146832176
NM_004006.3(DMD):c.1201C>T (p.Gln401Ter) rs2146821257
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter) rs398123852
NM_004006.3(DMD):c.1267C>T (p.Gln423Ter) rs2146819649
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter) rs398123853
NM_004006.3(DMD):c.1294_1295dup (p.Cys433fs) rs2059642653
NM_004006.3(DMD):c.1332-9A>G rs72468700
NM_004006.3(DMD):c.133C>T (p.Gln45Ter) rs794727499
NM_004006.3(DMD):c.1483-2A>G rs2149265203
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter) rs128626241
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.1659_1660insGTAA (p.Leu554fs) rs1556810362
NM_004006.3(DMD):c.1682G>A (p.Trp561Ter) rs2149138245
NM_004006.3(DMD):c.1900A>T (p.Lys634Ter) rs398123868
NM_004006.3(DMD):c.1928G>A (p.Trp643Ter) rs2149094851
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter) rs398123870
NM_004006.3(DMD):c.208A>T (p.Arg70Ter) rs2080510348
NM_004006.3(DMD):c.2227C>T (p.Gln743Ter) rs2046036327
NM_004006.3(DMD):c.2270C>A (p.Ser757Ter) rs1192427975
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.2292+2T>A rs1557396600
NM_004006.3(DMD):c.2449C>T (p.Gln817Ter) rs2148632136
NM_004006.3(DMD):c.2508_2509dup (p.Asn837fs) rs2148631503
NM_004006.3(DMD):c.2622+1_2622+5del
NM_004006.3(DMD):c.2638del (p.Leu880fs) rs1557380685
NM_004006.3(DMD):c.2642C>G (p.Ser881Ter) rs747937552
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter) rs398123903
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.2803+1G>C rs398123908
NM_004006.3(DMD):c.2804-1G>C rs398123909
NM_004006.3(DMD):c.2804-2A>C rs794727357
NM_004006.3(DMD):c.2914del (p.Tyr972fs) rs1569564281
NM_004006.3(DMD):c.2949+1G>A rs1557374482
NM_004006.3(DMD):c.2974C>T (p.Gln992Ter) rs2148460570
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter) rs886039536
NM_004006.3(DMD):c.3276+1G>T rs398123934
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter) rs863224993
NM_004006.3(DMD):c.3432+1G>A rs398123937
NM_004006.3(DMD):c.3433-5_3434del rs863224994
NM_004006.3(DMD):c.3438del (p.Val1145_Tyr1146insTer) rs2148349819
NM_004006.3(DMD):c.3487C>T (p.Gln1163Ter) rs1064793986
NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter) rs1263708289
NM_004006.3(DMD):c.358-1G>T rs886044582
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter) rs398123942
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3603+2dup rs796523999
NM_004006.3(DMD):c.3603+820G>T
NM_004006.3(DMD):c.3713del (p.Lys1238fs) rs1557362198
NM_004006.3(DMD):c.3771del (p.Lys1257fs) rs2148287339
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter) rs1557359192
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter) rs907237595
NM_004006.3(DMD):c.4071+1G>A rs1060502643
NM_004006.3(DMD):c.4295del (p.Gln1432fs) rs1557322834
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs) rs398123950
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter) rs398123954
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.3(DMD):c.4499C>A (p.Ser1500Ter) rs2147610804
NM_004006.3(DMD):c.4518+1G>T rs2147610408
NM_004006.3(DMD):c.457C>T (p.Gln153Ter) rs886042983
NM_004006.3(DMD):c.4697del (p.Leu1566fs) rs2147472674
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.4898_4899del (p.Glu1633fs) rs2147260712
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5002G>T (p.Glu1668Ter) rs2147258889
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter) rs886042154
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter) rs886042747
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5428dup (p.Glu1810fs) rs2147064006
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5680del (p.Asp1894fs) rs1569558964
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) rs794727666
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6370G>T (p.Glu2124Ter) rs1480437471
NM_004006.3(DMD):c.6425_6427dup (p.Trp2143Ter)
NM_004006.3(DMD):c.6438+1_6438+5del rs2147864743
NM_004006.3(DMD):c.6611dup (p.Arg2205fs) rs863225007
NM_004006.3(DMD):c.6868A>T (p.Lys2290Ter) rs2094827879
NM_004006.3(DMD):c.6982A>T (p.Lys2328Ter) rs754896795
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) rs398124040
NM_004006.3(DMD):c.7309+1G>A rs398124044
NM_004006.3(DMD):c.7309+5G>A
NM_004006.3(DMD):c.7510G>T (p.Glu2504Ter) rs2149244602
NM_004006.3(DMD):c.77del (p.Asn26fs) rs2147755024
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.7872+1G>T rs1603445278
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.3(DMD):c.8479G>T (p.Glu2827Ter) rs2147075563
NM_004006.3(DMD):c.8483T>G (p.Leu2828Ter) rs2069915167
NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter) rs753225356
NM_004006.3(DMD):c.8548-2A>G rs2068042914
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8668+1G>A rs2149256957
NM_004006.3(DMD):c.8669-1G>C rs886044324
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs) rs398124078
NM_004006.3(DMD):c.8912_8913dup (p.Gln2972fs) rs398124078
NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter) rs1060502633
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9219_9222del (p.Tyr3072_Tyr3073insTer) rs2056573240
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.3(DMD):c.9361+1G>A rs398124094
NM_004006.3(DMD):c.9361+1G>C rs398124094
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.9551dup (p.Asn3184fs) rs863225017
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9634del (p.Glu3212fs)
NM_004006.3(DMD):c.9689del (p.Asp3230fs)
NM_004006.3(DMD):c.9808-1G>A rs2148335739
NM_004006.3(DMD):c.9975-1G>A rs1556040444
NM_004006.3(DMD):c.9978C>A (p.Tyr3326Ter)
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.