ClinVar Miner

Variants in gene KIT with conflicting interpretations

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
2649 176 5 20 31 0 7 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 7 0 0
uncertain significance 1 7 4 29 8
likely benign 0 0 29 0 17
benign 0 0 8 17 1

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_000222.3(KIT):c.*217G>A rs17084733 0.10193
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_000222.3(KIT):c.2597-51T>C rs368272654 0.00263
NM_000222.3(KIT):c.1120G>A (p.Val374Ile) rs73137716 0.00218
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_000222.3(KIT):c.2361T>C (p.Asn787=) rs140912933 0.00207
NM_000222.3(KIT):c.2622G>A (p.Pro874=) rs55817813 0.00188
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_000222.3(KIT):c.503C>T (p.Ala168Val) rs149092990 0.00063
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
NM_000222.3(KIT):c.67+12C>T rs374618962 0.00031
NM_000222.3(KIT):c.1594G>A (p.Val532Ile) rs55792975 0.00028
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00022
NM_000222.3(KIT):c.952A>G (p.Met318Val) rs143388949 0.00019
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000222.3(KIT):c.2484C>T (p.Asn828=) rs141347955 0.00015
NM_000222.3(KIT):c.2234-3C>T rs370131461 0.00014
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000222.3(KIT):c.978C>T (p.Asn326=) rs148594615 0.00011
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
NM_000222.3(KIT):c.1351T>C (p.Ser451Pro) rs145183977 0.00006
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000222.3(KIT):c.1290A>G (p.Ala430=) rs55966164 0.00004
NM_000222.3(KIT):c.2802+9A>G rs369450271 0.00004
NM_000222.3(KIT):c.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000222.3(KIT):c.829A>G (p.Ile277Val) rs757547974 0.00002
NM_000222.3(KIT):c.2118T>G (p.Leu706=) rs766840704 0.00001
NM_000222.3(KIT):c.2562C>G (p.Ser854=) rs750039813 0.00001
NM_000222.3(KIT):c.2670C>T (p.Leu890=) rs745967881 0.00001
NM_000222.3(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000222.3(KIT):c.1232-6C>G rs1553890995
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly) rs121913235
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.3(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.252G>A (p.Thr84=) rs56411694
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694

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