ClinVar Miner

Variants with conflicting interpretations studied for Autosomal dominant Parkinson disease 8

Coded as:
Minimum review status of the submission for Autosomal dominant Parkinson disease 8: Collection method of the submission for Autosomal dominant Parkinson disease 8:
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
675 101 0 33 30 1 3 59

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
Autosomal dominant Parkinson disease 8 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 1 2 2 2 1
likely pathogenic 1 0 1 0 0 0
uncertain significance 2 1 0 24 11 1
likely benign 2 0 24 0 32 1
benign 2 0 11 32 0 1
risk factor 1 0 1 1 1 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
Autosomal dominant Parkinson disease 8 675 101 0 33 30 1 3 59

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_198578.3(LRRK2):c.149A>G (p.His50Arg) rs2256408 0.03048
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683 0.01681
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_198578.4(LRRK2):c.5509+20A>C rs11564134 0.01309
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713 0.01182
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786 0.01047
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met) rs72546327 0.00621
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111 0.00293
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232 0.00266
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_198578.4(LRRK2):c.225G>A (p.Ala75=) rs75054132 0.00146
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=) rs34869625 0.00101
NM_198578.4(LRRK2):c.3777+7C>T rs41286480 0.00097
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587 0.00085
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_198578.4(LRRK2):c.825T>C (p.His275=) rs72546315 0.00041
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) rs138780308 0.00035
NM_198578.4(LRRK2):c.4536+3A>G rs41286476 0.00027
NM_198578.4(LRRK2):c.364C>T (p.Leu122=) rs41286468 0.00026
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_198578.4(LRRK2):c.7462+15G>C rs200420425 0.00025
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_198578.4(LRRK2):c.2594C>T (p.Ser865Phe) rs142700458 0.00023
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=) rs148143226 0.00023
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr) rs568593066 0.00022
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=) rs139746572 0.00021
NM_198578.4(LRRK2):c.3429C>T (p.Ser1143=) rs142989436 0.00019
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly) rs35328937 0.00016
NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys) rs150422099 0.00012
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) rs112794616 0.00011
NM_198578.4(LRRK2):c.1073C>T (p.Thr358Met) rs141262110 0.00009
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser) rs77018758 0.00009
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=) rs372245035 0.00004
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met) rs200002022 0.00004
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=) rs757454147 0.00003
NM_198578.4(LRRK2):c.2070+9T>A rs201389324 0.00002
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=) rs773085638 0.00002
NM_198578.4(LRRK2):c.839-4T>G rs748213808 0.00002
NM_198578.4(LRRK2):c.2689+19_2689+20dup rs66810434
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His) rs33949390
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.4(LRRK2):c.5713G>C (p.Val1905Leu) rs754436306
NM_198578.4(LRRK2):c.606C>T (p.Asn202=) rs199854074
NM_198578.4(LRRK2):c.6281-3dup rs780258764
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=) rs199964631
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466

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