ClinVar Miner

List of variants in gene KIT reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.*252G>T rs376694515 0.00148
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
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.952A>G (p.Met318Val) rs143388949 0.00019
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.*597C>T rs746982052 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.*17G>A rs377596175 0.00008
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.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.2562C>G (p.Ser854=) rs750039813 0.00001
NM_000222.3(KIT):c.2670C>T (p.Leu890=) rs745967881 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.*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.-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.148G>T (p.Val50Leu) rs200950545
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.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2449A>T (p.Ile817Phe)
NM_000222.3(KIT):c.252G>A (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.615G>A (p.Arg205=) rs1720239935
NM_000222.3(KIT):c.78A>C (p.Gln26His) rs764782713

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