ClinVar Miner

Variants with conflicting interpretations studied for Duchenne muscular dystrophy

Coded as:
Minimum review status of the submission for Duchenne muscular dystrophy: 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 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
6970 192 0 27 9 1 9 44

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, low penetrance
pathogenic 0 16 5 0 1 0
likely pathogenic 16 0 3 1 2 0
uncertain significance 5 3 0 6 3 1
likely benign 0 1 6 0 11 0
benign 1 2 3 11 0 0
pathogenic, low penetrance 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 1
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
Duchenne muscular dystrophy 6970 192 0 27 9 1 9 44

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys) rs778811645 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.264+5G>A rs398123902
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.354G>A (p.Trp118Ter) rs2148849959
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.3(DMD):c.5026-2A>G rs1569559849
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004006.3(DMD):c.9649+5G>C rs1602695527
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
Single allele

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