List of variants in gene KIT reported as benign for Mastocytosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000222.3(KIT):c.*1704G>T	rs8022	0.16223
NM_000222.3(KIT):c.*149C>T	rs2213181	0.11143
NM_000222.3(KIT):c.1638A>G (p.Lys546=)	rs55986963	0.02258
NM_000222.3(KIT):c.2394C>T (p.Ile798=)	rs55789615	0.02125
NM_000222.3(KIT):c.2847C>T (p.Pro949=)	rs56288823	0.01843
NM_000222.3(KIT):c.1119C>T (p.Tyr373=)	rs72549293	0.00964
NM_000222.3(KIT):c.1794A>T (p.Gly598=)	rs72549292	0.00952
NM_000222.3(KIT):c.*66T>G	rs112972811	0.00939
NM_000222.3(KIT):c.*1241G>A	rs114377961	0.00931
NM_000222.3(KIT):c.*1524A>G	rs17084736	0.00815
NM_000222.3(KIT):c.*2017T>C	rs115028437	0.00555
NM_000222.3(KIT):c.*1220C>T	rs56372445	0.00418
NM_000222.3(KIT):c.*1791G>A	rs77842054	0.00358
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.*352A>G	rs149336515	0.00319
NM_000222.3(KIT):c.*888T>C	rs188598702	0.00289
NM_000222.3(KIT):c.1120G>A (p.Val374Ile)	rs73137716	0.00218
NM_000222.3(KIT):c.2622G>A (p.Pro874=)	rs55817813	0.00188
NM_000222.3(KIT):c.123A>T (p.Pro41=)	rs72549300	0.00182
NM_000222.3(KIT):c.2805T>A (p.Ile935=)	rs72549296	0.00176
NM_000222.3(KIT):c.*1834A>G	rs186953545	0.00125
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	rs72550822	0.00125
NM_000222.3(KIT):c.*790A>G	rs189995563	0.00059
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)	rs143707288	0.00059
NM_000222.3(KIT):c.-21G>T	rs201778132	0.00049
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.1594G>A (p.Val532Ile)	rs55792975	0.00028
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	rs200945282	0.00009
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	rs202052259	0.00006
NM_000222.3(KIT):c.2848G>A (p.Val950Met)	rs146374006	0.00001
NM_000222.3(KIT):c.*929G>A	rs572274912

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.