ClinVar Miner

Variants with conflicting interpretations studied for DMD-related condition

Minimum review status of the submission for DMD-related condition: Collection method of the submission for DMD-related condition:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
26 27 0 38 32 0 1 57

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
DMD-related condition likely pathogenic uncertain significance likely benign benign
likely benign 1 31 0 30
benign 0 1 8 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not provided 0 14 0 22 26 0 1 43
not specified 0 20 0 25 6 0 0 29
Cardiovascular phenotype 0 49 0 11 5 0 0 16
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
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.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.4072-245C>T rs140237546 0.00046
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004006.3(DMD):c.10836C>T (p.Ser3612=) rs148590546 0.00033
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_004006.3(DMD):c.9225-5795G>A rs138287985 0.00025
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004006.3(DMD):c.94-3C>T rs373907950 0.00018
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile) rs142133195 0.00017
NM_004006.3(DMD):c.4876G>A (p.Val1626Met) rs776998846 0.00014
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.8706G>A (p.Arg2902=) rs899851642 0.00013
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004006.3(DMD):c.8886C>T (p.Pro2962=) rs371648038 0.00005
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.1603-6C>T rs774626474 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004006.3(DMD):c.3814T>C (p.Leu1272=) rs746405191 0.00003
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp) rs755477994 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004006.3(DMD):c.8958G>A (p.Ala2986=) rs755815057 0.00003
NM_004006.3(DMD):c.5827A>G (p.Met1943Val) rs181849614 0.00002
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr) rs747055774 0.00001
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.1869C>G (p.Leu623=) rs1800267
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr) rs398123879
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.3433-20GTTT[2] rs771258264
NM_004006.3(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.932A>G (p.Asp311Gly) rs760932600

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