List of variants in gene KIT studied for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 131

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HGVS	dbSNP	gnomAD frequency
NM_000222.3(KIT):c.2586G>C (p.Leu862=)	rs3733542	0.16755
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.1621A>C (p.Met541Leu)	rs3822214	0.07727
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.*299G>C	rs185479436	0.00330
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.*252G>T	rs376694515	0.00148
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.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.*2056G>A	rs567475861	0.00024
NM_000222.3(KIT):c.*390A>G	rs528891717	0.00022
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.2502G>A (p.Lys834=)	rs146992614	0.00014
NM_000222.3(KIT):c.*597C>T	rs746982052	0.00013
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.*1086C>T	rs533152310	0.00010
NM_000222.3(KIT):c.2089C>T (p.His697Tyr)	rs763308199	0.00010
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	rs200945282	0.00009
NM_000222.3(KIT):c.464C>T (p.Pro155Leu)	rs367719489	0.00009
NM_000222.3(KIT):c.*17G>A	rs377596175	0.00008
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	rs202052259	0.00006
NM_000222.3(KIT):c.*701A>G	rs747912015	0.00005
NM_000222.3(KIT):c.*1808A>G	rs762662037	0.00004
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	rs768847037	0.00004
NM_000222.3(KIT):c.2802+9A>G	rs369450271	0.00004
NM_000222.3(KIT):c.840G>C (p.Ala280=)	rs142772432	0.00004
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)	rs773828910	0.00003
NM_000222.3(KIT):c.1139C>T (p.Thr380Met)	rs760981584	0.00002
NM_000222.3(KIT):c.2057G>A (p.Arg686His)	rs143772138	0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)	rs139000082	0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)	rs587778433	0.00002
NM_000222.3(KIT):c.*1190A>G	rs1016796314	0.00001
NM_000222.3(KIT):c.*2041A>G	rs922217138	0.00001
NM_000222.3(KIT):c.*368C>T	rs886059465	0.00001
NM_000222.3(KIT):c.*393A>G	rs886059466	0.00001
NM_000222.3(KIT):c.*575A>G	rs950845391	0.00001
NM_000222.3(KIT):c.1274T>A (p.Met425Lys)	rs878853760	0.00001
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)	rs569408054	0.00001
NM_000222.3(KIT):c.1616T>C (p.Ile539Thr)	rs781371383	0.00001
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)	rs756179543	0.00001
NM_000222.3(KIT):c.1889A>G (p.His630Arg)	rs373554876	0.00001
NM_000222.3(KIT):c.2118T>G (p.Leu706=)	rs766840704	0.00001
NM_000222.3(KIT):c.2264C>T (p.Ala755Val)	rs758252647	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.2848G>A (p.Val950Met)	rs146374006	0.00001
NM_000222.3(KIT):c.2863G>T (p.Val955Leu)	rs1060502568	0.00001
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)	rs1232060384	0.00001
NM_000222.3(KIT):c.301C>T (p.His101Tyr)	rs781130745	0.00001
NM_000222.3(KIT):c.531C>T (p.Arg177=)	rs756722358	0.00001
NM_000222.3(KIT):c.*1059C>T	rs886059467
NM_000222.3(KIT):c.*1087G>C	rs144602457
NM_000222.3(KIT):c.*1101A>G	rs886059468
NM_000222.3(KIT):c.1487_1490del	rs374796688
NM_000222.3(KIT):c.*1577T>C	rs1285763768
NM_000222.3(KIT):c.*198A>G	rs886059464
NM_000222.3(KIT):c.*37T>C	rs1723067916
NM_000222.3(KIT):c.*381C>T	rs1723087369
NM_000222.3(KIT):c.*530A>G	rs534199544
NM_000222.3(KIT):c.*929G>A	rs572274912
NM_000222.3(KIT):c.-56A>C	rs1560366372
NM_000222.3(KIT):c.1185C>A (p.Ser395=)	rs755864184
NM_000222.3(KIT):c.1264G>A (p.Val422Met)	rs1560414398
NM_000222.3(KIT):c.1468G>A (p.Glu490Lys)	rs1057519701
NM_000222.3(KIT):c.148G>T (p.Val50Leu)	rs200950545
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp)	rs753212327
NM_000222.3(KIT):c.1657T>A (p.Tyr553Asn)	rs1057519704
NM_000222.3(KIT):c.1666C>G (p.Gln556Glu)	rs1722301014
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg)	rs121913235
NM_000222.3(KIT):c.1670G>A (p.Trp557Ter)	rs1057520032
NM_000222.3(KIT):c.1675G>A (p.Val559Ile)	rs121913520
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)	rs121913517
NM_000222.3(KIT):c.1676TTG[1] (p.Val560del)	rs121913685
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)	rs121913513
NM_000222.3(KIT):c.1730_1738del (p.Pro577_Asp579del)	rs1131692239
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)	rs121913512
NM_000222.3(KIT):c.211C>G (p.Leu71Val)	rs1720013807
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)	rs1060502545
NM_000222.3(KIT):c.2446G>C (p.Asp816His)	rs121913506
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)	rs121913506
NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile)	rs1057519709
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	rs121913507
NM_000222.3(KIT):c.2449A>T (p.Ile817Phe)
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)	rs121913682
NM_000222.3(KIT):c.2459A>T (p.Asp820Val)	rs121913682
NM_000222.3(KIT):c.2460T>A (p.Asp820Glu)	rs1057519711
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)	rs993022333
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.2515G>A (p.Glu839Lys)	rs121913509
NM_000222.3(KIT):c.252G>A (p.Thr84=)	rs56411694
NM_000222.3(KIT):c.252G>T (p.Thr84=)	rs56411694
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	rs1722933723
NM_000222.3(KIT):c.2872A>G (p.Asn958Asp)	rs1560426461
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)	rs773709702
NM_000222.3(KIT):c.2923G>C (p.Asp975His)	rs373152714
NM_000222.3(KIT):c.302A>G (p.His101Arg)	rs1274601103
NM_000222.3(KIT):c.590C>T (p.Ser197Leu)	rs2109674601
NM_000222.3(KIT):c.615G>A (p.Arg205=)	rs1720239935
NM_000222.3(KIT):c.78A>C (p.Gln26His)	rs764782713

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