ClinVar Miner

List of variants in gene KIT reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1116-316C>G rs2969160 0.97095
NM_000222.3(KIT):c.926-294T>A rs3111809 0.95923
NM_000222.3(KIT):c.67+285C>G rs999021 0.59678
NM_000222.3(KIT):c.67+56T>C rs999020 0.58240
NM_000222.3(KIT):c.2484+78T>C rs1008658 0.52503
NM_000222.3(KIT):c.1115+240G>A rs17240054 0.37915
NM_000222.3(KIT):c.2362-77G>A rs4864921 0.31200
NM_000222.3(KIT):c.2362-107T>A rs11935331 0.19347
NM_000222.3(KIT):c.2484+298A>G rs1124007 0.18396
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.756+143A>G rs11947763 0.15509
NM_000222.3(KIT):c.*149C>T rs2213181 0.11143
NM_000222.3(KIT):c.2697-124A>G rs3752400 0.11102
NM_000222.3(KIT):c.2362-333A>T rs76282108 0.11099
NM_000222.3(KIT):c.2485-213C>T rs12649726 0.10909
NM_000222.3(KIT):c.1540+109T>C rs17084694 0.10417
NM_000222.3(KIT):c.*217G>A rs17084733 0.10193
NM_000222.3(KIT):c.1347-252G>C rs77509804 0.08249
NM_000222.3(KIT):c.1775-124G>A rs2276949 0.08156
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000222.3(KIT):c.1991-150T>C rs17084700 0.06735
NM_000222.3(KIT):c.619+244G>C rs34771962 0.04566
NM_000222.3(KIT):c.757-230C>T rs72549289 0.04387
NM_000222.3(KIT):c.337+185A>G rs3020819 0.04133
NM_000222.3(KIT):c.67+90A>G rs72550821 0.04017
NM_000222.3(KIT):c.67+216A>G rs150230728 0.02840
NM_000222.3(KIT):c.68-130T>C rs77049238 0.02533
NM_000222.3(KIT):c.2142-36A>G rs17084713 0.02490
NM_000222.3(KIT):c.1347-207C>T rs80160838 0.02479
NM_000222.3(KIT):c.1638A>G (p.Lys546=) rs55986963 0.02258
NM_000222.3(KIT):c.2803-339A>G rs17084732 0.02138
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000222.3(KIT):c.925+145C>T rs17084658 0.02020
NM_000222.3(KIT):c.620-66A>G rs17084647 0.02014
NM_000222.3(KIT):c.1116-191C>T rs17084677 0.01950
NM_000222.3(KIT):c.2847C>T (p.Pro949=) rs56288823 0.01843
NM_000222.3(KIT):c.1540+82A>G rs79820663 0.01745
NM_000222.3(KIT):c.2141+282G>T rs115239043 0.01402
NM_000222.3(KIT):c.2484+71C>T rs62304360 0.01246
NM_000222.3(KIT):c.1775-70C>G rs72549291 0.01235
NM_000222.3(KIT):c.757-280C>T rs75968133 0.01097
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_000222.3(KIT):c.1115+80C>T rs72549288 0.00954
NM_000222.3(KIT):c.1794A>T (p.Gly598=) rs72549292 0.00952
NM_000222.3(KIT):c.1991-195C>T rs112159116 0.00950
NM_000222.3(KIT):c.*66T>G rs112972811 0.00939
NM_000222.3(KIT):c.2234-51T>A rs28384378 0.00886
NM_000222.3(KIT):c.1232-92C>G rs56047838 0.00750
NM_000222.3(KIT):c.2484+159A>G rs77491202 0.00722
NM_000222.3(KIT):c.1775-131G>C rs7660233 0.00680
NM_000222.3(KIT):c.1116-113A>G rs56345799 0.00566
NM_000222.3(KIT):c.1775-116A>G rs116275848 0.00506
NM_000222.3(KIT):c.757-179T>A rs72549290 0.00465
NM_000222.3(KIT):c.2485-342G>A rs73818394 0.00416
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.*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.2802+218G>T rs61067548 0.00309
NM_000222.3(KIT):c.2234-87C>T rs138069735 0.00224
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.2805T>A (p.Ile935=) rs72549296 0.00176
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.1486G>A (p.Asp496Asn) rs143179681 0.00021
NM_000222.3(KIT):c.952A>G (p.Met318Val) rs143388949 0.00019
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000222.3(KIT):c.101C>T (p.Pro34Leu) rs55755457 0.00010
NM_000222.3(KIT):c.2923G>A (p.Asp975Asn) rs373152714 0.00010
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000222.3(KIT):c.2259T>C (p.Thr753=) rs764287169 0.00009
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000222.3(KIT):c.106C>T (p.Pro36Ser) rs781633384 0.00006
NM_000222.3(KIT):c.2920G>A (p.Asp974Asn) rs72549297 0.00006
NM_000222.3(KIT):c.2056C>T (p.Arg686Cys) rs148771698 0.00005
NM_000222.3(KIT):c.1555C>T (p.His519Tyr) rs370364842 0.00004
NM_000222.3(KIT):c.1879C>T (p.Pro627Ser) rs1032761406 0.00004
NM_000222.3(KIT):c.2663G>A (p.Arg888Gln) rs776681643 0.00004
NM_000222.3(KIT):c.52C>T (p.Leu18Phe) rs370787811 0.00004
NM_000222.3(KIT):c.182C>T (p.Pro61Leu) rs557317141 0.00003
NM_000222.3(KIT):c.2771T>C (p.Ile924Thr) rs1000138811 0.00003
NM_000222.3(KIT):c.734C>T (p.Thr245Met) rs755508624 0.00003
NM_000222.3(KIT):c.735G>A (p.Thr245=) rs150150449 0.00003
NM_000222.3(KIT):c.842G>A (p.Arg281Lys) rs147367441 0.00003
NM_000222.3(KIT):c.1036C>G (p.Gln346Glu) rs1060502555 0.00002
NM_000222.3(KIT):c.159G>C (p.Glu53Asp) rs749431345 0.00002
NM_000222.3(KIT):c.2146G>A (p.Asp716Asn) rs769701248 0.00002
NM_000222.3(KIT):c.2554G>A (p.Val852Ile) rs555650901 0.00002
NM_000222.3(KIT):c.757-9A>G rs367986084 0.00002
NM_000222.3(KIT):c.76C>G (p.Gln26Glu) rs759129060 0.00002
NM_000222.3(KIT):c.1181T>C (p.Val394Ala) rs1553889094 0.00001
NM_000222.3(KIT):c.1497G>A (p.Lys499=) rs374432699 0.00001
NM_000222.3(KIT):c.1616T>C (p.Ile539Thr) rs781371383 0.00001
NM_000222.3(KIT):c.1781C>T (p.Thr594Ile) rs375351432 0.00001
NM_000222.3(KIT):c.1951A>T (p.Met651Leu) rs534209826 0.00001
NM_000222.3(KIT):c.2072G>C (p.Cys691Ser) rs35200131 0.00001
NM_000222.3(KIT):c.2108A>G (p.Tyr703Cys) rs771012963 0.00001
NM_000222.3(KIT):c.2358G>T (p.Lys786Asn) rs202144208 0.00001
NM_000222.3(KIT):c.2473G>A (p.Val825Ile) rs878853765 0.00001
NM_000222.3(KIT):c.2601C>G (p.Ser867Arg) rs143074839 0.00001
NM_000222.3(KIT):c.2612C>G (p.Pro871Arg) rs755797225 0.00001
NM_000222.3(KIT):c.2689G>A (p.Ala897Thr) rs1250080954 0.00001
NM_000222.3(KIT):c.2837G>A (p.Arg946Gln) rs779103998 0.00001
NM_000222.3(KIT):c.2848G>A (p.Val950Met) rs146374006 0.00001
NM_000222.3(KIT):c.2873A>G (p.Asn958Ser) rs1060502563 0.00001
NM_000222.3(KIT):c.59T>G (p.Val20Gly) rs1393581394 0.00001
NM_000222.3(KIT):c.65C>T (p.Thr22Ile) rs769943127 0.00001
NC_000004.12:g.54657771G>A rs1005438
NM_000222.3(KIT):c.*839C>A rs183497667
NM_000222.3(KIT):c.-1G>A
NM_000222.3(KIT):c.120_123dup (p.Gly42fs) rs1161473997
NM_000222.3(KIT):c.1279C>T (p.Gln427Ter) rs1306680919
NM_000222.3(KIT):c.1407T>G (p.Phe469Leu) rs1553891415
NM_000222.3(KIT):c.148G>A (p.Val50Met) rs200950545
NM_000222.3(KIT):c.148G>T (p.Val50Leu) rs200950545
NM_000222.3(KIT):c.1504_1509dup (p.Tyr503_Phe504insAlaTyr)
NM_000222.3(KIT):c.1505C>T (p.Ala502Val) rs2109769609
NM_000222.3(KIT):c.1598C>T (p.Ala533Val)
NM_000222.3(KIT):c.1621A>T (p.Met541Leu) rs3822214
NM_000222.3(KIT):c.1637A>G (p.Lys546Arg) rs1722289602
NM_000222.3(KIT):c.164G>A (p.Arg55Lys) rs1720008828
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000222.3(KIT):c.1808T>C (p.Val603Ala) rs2109779589
NM_000222.3(KIT):c.1850_1852dup (p.Ala617_Met618insThr)
NM_000222.3(KIT):c.1885G>A (p.Ala629Thr)
NM_000222.3(KIT):c.2093C>T (p.Ala698Val)
NM_000222.3(KIT):c.20C>T (p.Ala7Val) rs2109520869
NM_000222.3(KIT):c.2239T>G (p.Tyr747Asp)
NM_000222.3(KIT):c.2279A>T (p.Asp760Val) rs747847018
NM_000222.3(KIT):c.2311A>T (p.Ser771Cys)
NM_000222.3(KIT):c.2422A>T (p.Ile808Phe)
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.2591_2594del (p.Phe863_Ser864insTer) rs886042030
NM_000222.3(KIT):c.2696+103A>C rs186865943
NM_000222.3(KIT):c.338-266A>G rs3111792
NM_000222.3(KIT):c.340C>A (p.Pro114Thr) rs772836939
NM_000222.3(KIT):c.355C>G (p.Leu119Val) rs1553887690
NM_000222.3(KIT):c.406T>C (p.Cys136Arg) rs1720223149
NM_000222.3(KIT):c.480G>C (p.Leu160Phe) rs1201516128
NM_000222.3(KIT):c.550C>A (p.Leu184Met) rs1577957143
NM_000222.3(KIT):c.695C>T (p.Thr232Met) rs767174569
NM_000222.3(KIT):c.716_727del (p.Ser239_Val242del)
NM_000222.3(KIT):c.803A>G (p.Asn268Ser)
NM_000222.3(KIT):c.867G>A (p.Met289Ile) rs1297145844

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