ClinVar Miner

Variants with conflicting interpretations studied for Duchenne muscular dystrophy

Coded as:
Minimum review status of the submission for Duchenne muscular dystrophy: Y axis collection method of the submission for Duchenne muscular dystrophy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
613 293 0 105 104 0 6 180

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Duchenne muscular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 2 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 4 1 0 16 5
likely benign 0 0 41 0 10
benign 1 1 49 89 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 78 0 74 26 0 0 95
not provided 0 250 0 9 66 0 4 79
Dilated cardiomyopathy 3B 0 19 0 21 19 0 0 38
Cardiovascular phenotype 0 50 0 22 15 0 0 37
Becker muscular dystrophy 0 115 0 5 2 0 2 9
Duchenne muscular dystrophy 1034 43 0 4 3 0 2 9
Primary dilated cardiomyopathy 0 2 0 2 1 0 0 3
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 0 0 1 0 0 1
Autism spectrum disorder 0 0 0 0 0 0 1 1
Cardiomyopathy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 180
Download table as spreadsheet
HGVS dbSNP
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.3(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.3(DMD):c.8367-2A>G rs1556665303
NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_004006.2(DMD):c.10128A>G (p.Leu3376=) rs755438733
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
NM_004006.2(DMD):c.10789C>T (p.Leu3597=) rs1800281
NM_004006.2(DMD):c.10836C>T (p.Ser3612=) rs148590546
NM_004006.2(DMD):c.10846A>G (p.Thr3616Ala) rs368996545
NM_004006.2(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606
NM_004006.2(DMD):c.1095A>C (p.Gln365His) rs1800266
NM_004006.2(DMD):c.1184G>A (p.Arg395Gln) rs148511512
NM_004006.2(DMD):c.1225A>T (p.Thr409Ser) rs34155804
NM_004006.2(DMD):c.1252A>T (p.Thr418Ser) rs201341211
NM_004006.2(DMD):c.1382A>G (p.Asn461Ser) rs775115784
NM_004006.2(DMD):c.1503A>G (p.Glu501=) rs770464589
NM_004006.2(DMD):c.1513G>C (p.Val505Leu) rs140340626
NM_004006.2(DMD):c.1603-4C>A rs377223643
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.1704+3G>A rs773123973
NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) rs150199251
NM_004006.2(DMD):c.1809G>A (p.Leu603=) rs192176661
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.1812C>T (p.Ala604=) rs140919039
NM_004006.2(DMD):c.1813-3C>A rs181399181
NM_004006.2(DMD):c.1824G>A (p.Ala608=) rs151013182
NM_004006.2(DMD):c.1848C>A (p.Ser616=) rs376024929
NM_004006.2(DMD):c.1869C>G (p.Leu623=) rs1800267
NM_004006.2(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.2(DMD):c.1888A>G (p.Thr630Ala) rs72468692
NM_004006.2(DMD):c.2166A>G (p.Lys722=) rs147580966
NM_004006.2(DMD):c.2199C>T (p.Ser733=) rs149882431
NM_004006.2(DMD):c.2261G>T (p.Gly754Val) rs151242451
NM_004006.2(DMD):c.2331G>C (p.Leu777=) rs369659071
NM_004006.2(DMD):c.2380+10C>T rs372330460
NM_004006.2(DMD):c.2386G>A (p.Val796Ile) rs139726281
NM_004006.2(DMD):c.2457A>C (p.Leu819=) rs72468680
NM_004006.2(DMD):c.2490C>T (p.Asn830=) rs72468679
NM_004006.2(DMD):c.2508T>C (p.Tyr836=) rs886044674
NM_004006.2(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.2(DMD):c.2572A>T (p.Thr858Ser) rs752670585
NM_004006.2(DMD):c.2575A>T (p.Thr859Ser) rs187926894
NM_004006.2(DMD):c.2745A>C (p.Thr915=) rs149922633
NM_004006.2(DMD):c.2824A>G (p.Met942Val) rs371648742
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.2848G>A (p.Ala950Thr) rs794728997
NM_004006.2(DMD):c.2884C>G (p.Leu962Val) rs150959827
NM_004006.2(DMD):c.295A>G (p.Ile99Val) rs149428656
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.2988A>G (p.Leu996=) rs148835707
NM_004006.2(DMD):c.3020C>T (p.Ser1007Leu) rs144732570
NM_004006.2(DMD):c.3096C>G (p.Leu1032=) rs770148717
NM_004006.2(DMD):c.3162+4A>G rs189048508
NM_004006.2(DMD):c.3217G>A (p.Glu1073Lys) rs398123931
NM_004006.2(DMD):c.3269A>T (p.Gln1090Leu) rs747239076
NM_004006.2(DMD):c.3326A>T (p.Asn1109Ile) rs200596739
NM_004006.2(DMD):c.3375G>A (p.Ser1125=) rs191164314
NM_004006.2(DMD):c.3406A>T (p.Thr1136Ser) rs3827462
NM_004006.2(DMD):c.3419A>G (p.His1140Arg) rs201297190
NM_004006.2(DMD):c.3432+2036A>C rs182575709
NM_004006.2(DMD):c.3432+2036A>G rs182575709
NM_004006.2(DMD):c.3445A>G (p.Lys1149Glu) rs144667422
NM_004006.2(DMD):c.3603+8A>G rs193249735
NM_004006.2(DMD):c.3663A>G (p.Val1221=) rs750549006
NM_004006.2(DMD):c.3666T>C (p.Asn1222=) rs373281760
NM_004006.2(DMD):c.3705C>T (p.Ala1235=) rs143628111
NM_004006.2(DMD):c.3734C>T (p.Thr1245Ile) rs1800269
NM_004006.2(DMD):c.3794G>C (p.Trp1265Ser) rs200213555
NM_004006.2(DMD):c.3951G>A (p.Glu1317=) rs199643655
NM_004006.2(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.2(DMD):c.4072-3T>C rs751657094
NM_004006.2(DMD):c.4093C>T (p.Leu1365Phe) rs148781346
NM_004006.2(DMD):c.4125T>C (p.Thr1375=) rs144329742
NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) rs28715870
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.4275A>G (p.Glu1425=) rs72468647
NM_004006.2(DMD):c.434G>C (p.Arg145Pro) rs398123952
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.2(DMD):c.4675-11A>G rs1557316295
NM_004006.2(DMD):c.4698G>A (p.Leu1566=) rs1060504680
NM_004006.2(DMD):c.4721G>A (p.Arg1574His) rs755206033
NM_004006.2(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.2(DMD):c.4775T>C (p.Met1592Thr) rs398123966
NM_004006.2(DMD):c.4876G>A (p.Val1626Met) rs776998846
NM_004006.2(DMD):c.4878G>T (p.Val1626=) rs61733574
NM_004006.2(DMD):c.5010G>T (p.Trp1670Cys) rs727503828
NM_004006.2(DMD):c.5016T>A (p.Asn1672Lys) rs16990264
NM_004006.2(DMD):c.5040C>T (p.His1680=) rs72468632
NM_004006.2(DMD):c.5181A>T (p.Ile1727=) rs200887855
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.2(DMD):c.5203C>T (p.Arg1735Cys) rs147904018
NM_004006.2(DMD):c.5234G>A (p.Arg1745His) rs1801187
NM_004006.2(DMD):c.5265C>T (p.Pro1755=) rs145515413
NM_004006.2(DMD):c.530+7A>T rs72470523
NM_004006.2(DMD):c.5324_5325delAGinsGT (p.Lys1775Ser) rs1557303381
NM_004006.2(DMD):c.5476G>C (p.Glu1826Gln) rs140913030
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.2(DMD):c.5548A>G (p.Lys1850Glu) rs141261536
NM_004006.2(DMD):c.5586+9G>A rs200025478
NM_004006.2(DMD):c.5620G>A (p.Glu1874Lys) rs142441725
NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004006.2(DMD):c.5724T>C (p.Asp1908=) rs143159113
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004006.2(DMD):c.5933G>A (p.Arg1978His) rs148135406
NM_004006.2(DMD):c.5933G>T (p.Arg1978Leu) rs148135406
NM_004006.2(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593
NM_004006.2(DMD):c.6052C>A (p.Leu2018Ile) rs367702968
NM_004006.2(DMD):c.606C>T (p.Ile202=) rs138335295
NM_004006.2(DMD):c.6132T>C (p.Ser2044=) rs761338933
NM_004006.2(DMD):c.6143G>A (p.Ser2048Asn) rs200494003
NM_004006.2(DMD):c.618A>G (p.Gln206=) rs727503865
NM_004006.2(DMD):c.6320G>A (p.Arg2107Gln) rs142807436
NM_004006.2(DMD):c.6322C>T (p.Arg2108Cys) rs16990169
NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.2(DMD):c.6471T>A (p.Thr2157=) rs377080659
NM_004006.2(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004006.2(DMD):c.6614+7C>A rs180719577
NM_004006.2(DMD):c.6614+7C>T rs180719577
NM_004006.2(DMD):c.6614+8G>A rs377508818
NM_004006.2(DMD):c.6732G>C (p.Gln2244His) rs142531761
NM_004006.2(DMD):c.696C>G (p.Ile232Met) rs145668843
NM_004006.2(DMD):c.7016A>G (p.His2339Arg) rs398124041
NM_004006.2(DMD):c.7051T>C (p.Leu2351=) rs367747168
NM_004006.2(DMD):c.7085C>A (p.Pro2362Gln) rs141151675
NM_004006.2(DMD):c.7130C>T (p.Pro2377Leu) rs201262489
NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.7200+9G>A rs748786108
NM_004006.2(DMD):c.7243C>T (p.Arg2415Cys) rs139395045
NM_004006.2(DMD):c.7244G>A (p.Arg2415His) rs373749120
NM_004006.2(DMD):c.7323T>C (p.Thr2441=) rs201919981
NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) rs147694734
NM_004006.2(DMD):c.7521C>T (p.Asn2507=) rs112516305
NM_004006.2(DMD):c.7555G>A (p.Asp2519Asn) rs771877780
NM_004006.2(DMD):c.7578G>A (p.Gln2526=) rs142236825
NM_004006.2(DMD):c.7596C>T (p.Thr2532=) rs778412539
NM_004006.2(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.8027+7A>T rs72466580
NM_004006.2(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004006.2(DMD):c.8138A>G (p.Asn2713Ser) rs758633794
NM_004006.2(DMD):c.8212T>C (p.Trp2738Arg) rs372600090
NM_004006.2(DMD):c.821A>G (p.Tyr274Cys) rs745868830
NM_004006.2(DMD):c.8226A>G (p.Gln2742=) rs746514008
NM_004006.2(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446
NM_004006.2(DMD):c.832-3C>T rs777492476
NM_004006.2(DMD):c.8322G>A (p.Leu2774=) rs72466575
NM_004006.2(DMD):c.8418G>A (p.Gln2806=) rs953271494
NM_004006.2(DMD):c.8436T>C (p.Leu2812=) rs139365076
NM_004006.2(DMD):c.8571T>C (p.Thr2857=) rs72466570
NM_004006.2(DMD):c.8643A>G (p.Leu2881=) rs747605156
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004006.2(DMD):c.8767G>T (p.Ala2923Ser) rs116283249
NM_004006.2(DMD):c.8847G>A (p.Lys2949=) rs185664502
NM_004006.2(DMD):c.8852G>A (p.Arg2951His) rs72466567
NM_004006.2(DMD):c.8974G>A (p.Val2992Met) rs201691420
NM_004006.2(DMD):c.9033G>A (p.Pro3011=) rs774722438
NM_004006.2(DMD):c.9165G>A (p.Thr3055=) rs137905486
NM_004006.2(DMD):c.9225-647A>G rs398124091
NM_004006.2(DMD):c.9325G>T (p.Ala3109Ser) rs201718067
NM_004006.2(DMD):c.94-3C>T rs373907950
NM_004006.2(DMD):c.94-9T>A rs3764764
NM_004006.2(DMD):c.94-9dupT rs3834997
NM_004006.2(DMD):c.9479G>A (p.Arg3160His) rs771392678
NM_004006.2(DMD):c.9486G>A (p.Glu3162=) rs370724251
NM_004006.2(DMD):c.9563+4C>T rs753666498
NM_004006.2(DMD):c.9564-5A>G rs201390145
NM_004006.2(DMD):c.960+9A>G rs886038537
NM_004006.2(DMD):c.961-5831C>T rs398124099
NM_004006.2(DMD):c.9649+8G>A rs373703618
NM_004006.2(DMD):c.9804A>G (p.Gln3268=) rs12690372
NM_004006.2(DMD):c.9888C>T (p.Pro3296=) rs146543659
NM_004013.2(DMD):c.928G>A (p.Asp310Asn) rs138399787
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872

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