ClinVar Miner

List of variants in gene KIT studied for neurocristopathy

Included ClinVar conditions (174):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
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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.67+4G>A rs72550820 0.00969
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.532G>A (p.Ala178Thr) rs115585711 0.00342
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.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.2920G>A (p.Asp974Asn) rs72549297 0.00006
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.2663G>A (p.Arg888Gln) rs776681643 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.159G>C (p.Glu53Asp) rs749431345 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.555T>G (p.His185Gln) rs1227095960 0.00002
NM_000222.3(KIT):c.749A>G (p.Asn250Ser) rs748527429 0.00002
NM_000222.3(KIT):c.793G>A (p.Gly265Ser) rs1060502570 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.1231+13A>T rs765419741 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.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.2138C>A (p.Ser713Tyr) rs775274159 0.00001
NM_000222.3(KIT):c.2562C>G (p.Ser854=) rs750039813 0.00001
NM_000222.3(KIT):c.2612C>G (p.Pro871Arg) rs755797225 0.00001
NM_000222.3(KIT):c.2670C>T (p.Leu890=) rs745967881 0.00001
NM_000222.3(KIT):c.2692G>A (p.Glu898Lys) rs1722948356 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
NC_000004.12:g.(?_54229292)_(54740716_)del
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.1109A>G (p.Asn370Ser) rs878853758
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.1344G>C (p.Gln448His) rs542718349
NM_000222.3(KIT):c.148G>T (p.Val50Leu) rs200950545
NM_000222.3(KIT):c.1681dup (p.Glu561fs) rs794726673
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.3(KIT):c.1751T>G (p.Phe584Cys) rs28933371
NM_000222.3(KIT):c.1752T>G (p.Phe584Leu) rs794726671
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr) rs1560418178
NM_000222.3(KIT):c.1879+1G>A rs794726675
NM_000222.3(KIT):c.1879C>G (p.Pro627Ala)
NM_000222.3(KIT):c.1900C>T (p.Arg634Trp) rs144369407
NM_000222.3(KIT):c.1924A>C (p.Lys642Gln)
NM_000222.3(KIT):c.1925_1926del (p.Lys642fs) rs794726672
NM_000222.3(KIT):c.1952T>A (p.Met651Lys) rs1374100918
NM_000222.3(KIT):c.1990G>A (p.Gly664Arg) rs121913679
NM_000222.3(KIT):c.2000T>G (p.Leu667Arg) rs1560419312
NM_000222.3(KIT):c.2024A>G (p.Tyr675Cys) rs764970586
NM_000222.3(KIT):c.2116C>T (p.Leu706Phe) rs1577998119
NM_000222.3(KIT):c.211C>G (p.Leu71Val) rs1720013807
NM_000222.3(KIT):c.2138C>T (p.Ser713Phe) rs775274159
NM_000222.3(KIT):c.2141+3A>G rs1722453185
NM_000222.3(KIT):c.2164A>G (p.Met722Val) rs1255211227
NM_000222.3(KIT):c.2244_2253del (p.Ile748fs) rs2109794937
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.3(KIT):c.2360_2361+4dup
NM_000222.3(KIT):c.237del (p.Asn80fs)
NM_000222.3(KIT):c.2415_2422del (p.Thr806fs) rs2109801456
NM_000222.3(KIT):c.2449A>T (p.Ile817Phe)
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.2539A>C (p.Thr847Pro) rs121913687
NM_000222.3(KIT):c.253del (p.Glu85fs) rs794726674
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)
NM_000222.3(KIT):c.2781G>T (p.Gln927His)
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.458G>C (p.Gly153Ala)
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.67+5G>T rs1553881794
NM_000222.3(KIT):c.677G>A (p.Gly226Glu) rs1577958652
NM_000222.3(KIT):c.689C>T (p.Thr230Ile)
NM_000222.3(KIT):c.767A>G (p.Gln256Arg)
NM_000222.3(KIT):c.78A>C (p.Gln26His) rs764782713
NM_000222.3(KIT):c.867G>A (p.Met289Ile) rs1297145844
NM_000222.3(KIT):c.978C>G (p.Asn326Lys) rs148594615

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