ClinVar Miner

Variants in gene UNC80 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
1878 97 0 29 12 0 4 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 0 0 0
likely pathogenic 9 0 4 1 0
uncertain significance 0 4 0 11 1
likely benign 0 1 11 0 20
benign 0 0 1 20 0

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu) rs61271372 0.01165
NM_001371986.1(UNC80):c.3926C>T (p.Thr1309Ile) rs78846221 0.00633
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001371986.1(UNC80):c.1620C>G (p.Ser540=) rs182186415 0.00381
NM_001371986.1(UNC80):c.2231A>G (p.Glu744Gly) rs202155016 0.00317
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_001371986.1(UNC80):c.7470C>T (p.Ala2490=) rs77708914 0.00238
NM_001371986.1(UNC80):c.404C>T (p.Thr135Ile) rs146163378 0.00230
NM_001371986.1(UNC80):c.9141C>T (p.Ser3047=) rs73003402 0.00200
NM_001371986.1(UNC80):c.3250+9A>G rs144170692 0.00196
NM_001371986.1(UNC80):c.4481-5T>C rs113865560 0.00175
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_001371986.1(UNC80):c.9933G>A (p.Glu3311=) rs138970658 0.00150
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00141
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001371986.1(UNC80):c.3372T>G (p.Ser1124Arg) rs199664663 0.00090
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr) rs78499613 0.00073
NM_001371986.1(UNC80):c.6165C>T (p.Thr2055=) rs76521176 0.00064
NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala) rs78912192 0.00063
NM_001371986.1(UNC80):c.765T>C (p.Cys255=) rs145935313 0.00062
NM_001371986.1(UNC80):c.8528C>T (p.Ala2843Val) rs199561408 0.00049
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile) rs372195299 0.00036
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) rs376511864 0.00031
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001371986.1(UNC80):c.3243C>T (p.Leu1081=) rs183886966 0.00024
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln) rs182597438 0.00006
NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val) rs750442854 0.00004
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) rs1001497433 0.00004
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln) rs1255262851 0.00001
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu) rs532329476
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr) rs1467598370
NM_001371986.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala) rs138421862
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr) rs869025317
NM_001371986.1(UNC80):c.7806-17AT[8] rs752949976
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter) rs869025319
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644

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