ClinVar Miner

Variants in gene KIF5A with conflicting interpretations

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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
1165 163 0 33 43 0 3 76

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 2 0 0
likely pathogenic 9 0 1 0 0
uncertain significance 2 1 0 42 4
likely benign 0 0 42 0 24
benign 0 0 4 24 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00740
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00064
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) rs200876187 0.00023
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) rs114935472 0.00020
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_004984.4(KIF5A):c.292-5G>A rs201917057 0.00016
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00016
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00009
NM_004984.4(KIF5A):c.820-9C>A rs185306438 0.00009
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.1087C>T (p.Leu363=) rs377553514 0.00006
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) rs554894381 0.00005
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00004
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) rs377539747 0.00003
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00003
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2538+8T>G rs377005699 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325 0.00001
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.1922G>A (p.Arg641His) rs767277745 0.00001
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2571G>A (p.Glu857=) rs747531341 0.00001
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln) rs1188692048 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu) rs751496558 0.00001
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) rs771476833 0.00001
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys) rs753854351
NM_004984.4(KIF5A):c.118G>A (p.Val40Ile) rs1565690660
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu) rs1177916529
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala) rs1465463508
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.2991T>C (p.Asn997=) rs1236506833
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) rs1555179087
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.819T>C (p.Thr273=) rs2540499492
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000

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