ClinVar Miner

List of variants in gene KIT reported as uncertain significance for not provided

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Total variants: 97
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HGVS dbSNP gnomAD frequency
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.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
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.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.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.464C>T (p.Pro155Leu) rs367719489 0.00009
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
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.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000222.3(KIT):c.146G>A (p.Arg49His) rs376469897 0.00005
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.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000222.3(KIT):c.1207A>G (p.Ile403Val) rs878853759 0.00003
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.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.829A>G (p.Ile277Val) rs757547974 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.2198C>T (p.Pro733Leu) rs992027457 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.2757A>T (p.Gln919His) rs770617877 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
GRCh37/hg19 4q12(chr4:55537480-55675239)x3
NM_000222.3(KIT):c.-1G>A
NM_000222.3(KIT):c.1080A>C (p.Glu360Asp) rs753844400
NM_000222.3(KIT):c.1403C>T (p.Pro468Leu) rs200518498
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.1540G>T (p.Glu514Ter) rs1553891472
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.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.2087A>T (p.Asp696Val) rs1722444395
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.2270T>A (p.Met757Lys) rs1264359120
NM_000222.3(KIT):c.2279A>T (p.Asp760Val) rs747847018
NM_000222.3(KIT):c.2311A>T (p.Ser771Cys)
NM_000222.3(KIT):c.2448C>T (p.Asp816=) rs886043371
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.447G>C (p.Lys149Asn)
NM_000222.3(KIT):c.480G>C (p.Leu160Phe) rs1201516128
NM_000222.3(KIT):c.484T>G (p.Phe162Val) rs201222895
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.776A>G (p.Tyr259Cys) rs200422460
NM_000222.3(KIT):c.803A>G (p.Asn268Ser)
NM_000222.3(KIT):c.867G>A (p.Met289Ile) rs1297145844
NM_000222.3(KIT):c.916G>C (p.Glu306Gln) rs753258292

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