ClinVar Miner

List of variants in gene DMD reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004006.3(DMD):c.3604-12T>A rs183613970 0.00123
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_004006.3(DMD):c.4072-245C>T rs140237546 0.00046
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_004006.3(DMD):c.9225-5819G>T rs377152944 0.00026
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004006.3(DMD):c.32-14A>G rs367757761 0.00015
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser) rs876657778 0.00009
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.*24G>A rs372284841 0.00006
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter) rs1477369230 0.00006
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys) rs146384458 0.00006
NM_004006.3(DMD):c.43G>C (p.Asp15His) rs876657780 0.00006
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly) rs771051897 0.00006
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg) rs368594777 0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser) rs910214749 0.00004
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu) rs144717862 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile) rs201532491 0.00004
NM_004006.3(DMD):c.6118-13T>G rs750033728 0.00004
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala) rs181284440 0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser) rs889238270 0.00003
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro) rs766325631 0.00003
NM_004006.3(DMD):c.31+83105G>A rs772161214 0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_004006.3(DMD):c.298G>A (p.Val100Ile) rs779099343 0.00002
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr) rs371646182 0.00002
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met) rs1431604157 0.00002
NM_004006.3(DMD):c.9695G>A (p.Arg3232His) rs751095907 0.00002
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.1047A>T (p.Glu349Asp) rs1044325754 0.00001
NM_004006.3(DMD):c.2905G>A (p.Val969Ile) rs750582245 0.00001
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu) rs745640786 0.00001
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg) rs876657779 0.00001
NM_004006.3(DMD):c.4258C>T (p.His1420Tyr) rs1475038240 0.00001
NM_004006.3(DMD):c.5518G>C (p.Asp1840His) rs905571950 0.00001
NM_004006.3(DMD):c.5739+8T>C rs1321625981 0.00001
NM_004006.3(DMD):c.5986G>A (p.Val1996Met) rs2097556758 0.00001
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp) rs140791274 0.00001
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln) rs756696562 0.00001
NM_004006.3(DMD):c.711A>C (p.Gln237His) rs778632674 0.00001
NM_004006.3(DMD):c.7873-6C>A rs764629897 0.00001
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu) rs151087470 0.00001
GRCh37/hg19 Xp21.1(chrX:31720723-31828077)
GRCh37/hg19 Xp21.1(chrX:32008563-32707560)
GRCh37/hg19 Xp21.1(chrX:32404499-32681483)
GRCh37/hg19 Xp21.1(chrX:32551504-32656069)
GRCh37/hg19 Xp21.1(chrX:32627257-33596357)
NC_000023.10:g.(31144791_31152218)_(31152312_31164407)dup
NC_000023.10:g.(31165636_31187559)_(31187719_31190464)dup
NC_000023.10:g.(31165636_31187559)_(31196088_31196785)dup
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)del
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)dup
NC_000023.10:g.(31201022_31222077)_(31222236_31224698)dup
NC_000023.10:g.(31241239_31279071)_(31792310_31838091)dup
NC_000023.10:g.(31279134_31341714)_(31645980_31676106)dup
NC_000023.10:g.(31366752_31462597)_(31525571_31645789)dup
NC_000023.10:g.(31366752_31462597)_(31986632_32235032)dup
NC_000023.10:g.(31676262_31697491)_(32305819_32328198)dup
NC_000023.10:g.(31747866_31792076)_(31986632_32235032)dup
NC_000023.10:g.(31792310_31838091)_(32490427_32503035)dup
NC_000023.10:g.(32305819_32328198)_(32328394_32360216)dup
NC_000023.10:g.(32328394_32360216)_(32360400_32361250)dup
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)dup
NC_000023.10:g.(32366646_32380904)_(32430031_32456357)dup
NC_000023.10:g.(32381076_32382698)_(32382828_32383136)dup
NC_000023.10:g.(32382828_32383136)_(32383317_32398626)dup
NC_000023.10:g.(32383317_32398626)_(32398798_32404426)dup
NC_000023.10:g.(32407792_32408187)_(32408299_32429868)dup
NC_000023.10:g.(32408299_32429868)_(32563452_32583818)dup
NC_000023.10:g.(32456508_32459296)_(32459432_32466572)dup
NC_000023.10:g.(32459432_32466572)_(32663270_32715986)dup
NC_000023.10:g.(32466756_32472778)_(32472950_32481555)dup
NC_000023.10:g.(32563452_32583818)_(32613994_32632419)dup
NC_000023.10:g.(32613994_32632419)_(32663270_32715986)dup
NC_000023.10:g.(32867938_33038255)_(33229674_?)dup
NC_000023.10:g.(33038318_33229398)_(33229674_?)dup
NC_000023.10:g.(?_31137344)_(31152312_31164407)dup
NC_000023.10:g.(?_31137344)_(31191722_31196048)dup
NC_000023.10:g.(?_31137344)_(31241239_31279071)dup
NC_000023.10:g.(?_31137344)_(31279134_31341714)dup
NC_000023.10:g.(?_31137344)_(31341776_31366672)dup
NC_000023.10:g.(?_31137344)_(31497221_31514904)dup
NC_000023.10:g.(?_31137344)_(31645980_31676106)dup
NC_000023.11:g.(?_31119227)_(31348635_31444480)dup
NM_004006.2:c.(1992+1_1993-1)_(4233+1_4234-1)[3]
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.-10A>T rs1557300175
NM_004006.3(DMD):c.-164_-132del
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004006.3(DMD):c.10262+1G>T rs145603325
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu) rs199974153
NM_004006.3(DMD):c.10728_10731inv (p.Met3576_Gln3577delinsIleCys)
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.1248A>T (p.Glu416Asp) rs876657777
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly) rs1556875180
NM_004006.3(DMD):c.1331+2dup rs1556875106
NM_004006.3(DMD):c.1331+3_1331+6del rs2146818031
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.187-10_187-6del rs1557079581
NM_004006.3(DMD):c.1961T>C (p.Leu654Ser) rs1057518312
NM_004006.3(DMD):c.2381A>G (p.Glu794Gly)
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser) rs2148584563
NM_004006.3(DMD):c.266T>C (p.Val89Ala) rs1557058441
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg) rs2040732218
NM_004006.3(DMD):c.2950-9G>T rs772822759
NM_004006.3(DMD):c.31+7A>G rs2148863971
NM_004006.3(DMD):c.31+8C>T
NM_004006.3(DMD):c.3433-20GTTT[2] rs771258264
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004006.3(DMD):c.3929A>C (p.Glu1310Ala) rs2148194722
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr) rs753639717
NM_004006.3(DMD):c.419T>G (p.Leu140Arg) rs1557052675
NM_004006.3(DMD):c.4296G>C (p.Gln1432His) rs747262903
NM_004006.3(DMD):c.464A>G (p.Asn155Ser) rs2148806581
NM_004006.3(DMD):c.5068_5070del (p.His1690del) rs761764494
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala) rs2097842153
NM_004006.3(DMD):c.531-10T>A rs747522183
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg) rs794727662
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln) rs2097746777
NM_004006.3(DMD):c.5922+3G>C rs398124000
NM_004006.3(DMD):c.6290+5G>A rs886043467
NM_004006.3(DMD):c.640G>A (p.Asp214Asn) rs876657781
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup) rs1395996899
NM_004006.3(DMD):c.6652A>G (p.Arg2218Gly) rs2094863769
NM_004006.3(DMD):c.7201-4A>G rs1556917126
NM_004006.3(DMD):c.7661-6T>G rs2148734428
NM_004006.3(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004006.3(DMD):c.8027+19C>A rs1202693482
NM_004006.3(DMD):c.8333G>A (p.Arg2778His) rs2071050854
NM_004006.3(DMD):c.8391-305A>T
NM_004006.3(DMD):c.8582T>A (p.Val2861Glu)
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
NM_004006.3(DMD):c.875C>G (p.Pro292Arg) rs915965687
NM_004006.3(DMD):c.9137G>A (p.Gly3046Asp) rs2148491931
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985
NM_004006.3(DMD):c.9362-3C>T rs752816247
NM_004006.3(DMD):c.9433A>G (p.Met3145Val) rs775080631

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