ClinVar Miner

Variants in gene KIF1B 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
2560 74 0 25 29 1 4 55

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.

likely pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 0 3 2 0 0
uncertain significance 3 0 26 5 1
likely benign 2 26 0 25 0
benign 0 5 25 0 0
risk factor 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00357
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001365951.3(KIF1B):c.2115+6625G>A rs145248590 0.00129
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
NM_001365951.3(KIF1B):c.2115+5958G>A rs150181429 0.00050
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_001365951.3(KIF1B):c.4356A>G (p.Thr1452=) rs150358670 0.00038
NM_001365951.3(KIF1B):c.2115+7081C>T rs376558549 0.00029
NM_001365951.3(KIF1B):c.2115+6313G>A rs374263753 0.00028
NM_001365951.3(KIF1B):c.2115+6835C>T rs140733878 0.00026
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=) rs150411706 0.00019
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=) rs140229905 0.00019
NM_001365951.3(KIF1B):c.3131G>A (p.Ser1044Asn) rs769602520 0.00016
NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=) rs143112560 0.00014
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr) rs145969842 0.00013
NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg) rs140015591 0.00011
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307 0.00009
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=) rs543345616 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) rs769092155 0.00004
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=) rs148438684 0.00003
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_001365951.3(KIF1B):c.1515-5C>T rs776534234 0.00001
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly) rs779626536 0.00001
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn) rs121908164 0.00001
NM_001365951.3(KIF1B):c.4849C>T (p.Arg1617Trp) rs765259892 0.00001
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001365951.3(KIF1B):c.430-9del rs771477893
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975

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