ClinVar Miner

List of variants in gene KIT studied for not provided

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Gene type:
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Total variants: 89
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HGVS dbSNP
GRCh37/hg19 4q12(chr4:55537480-55675239)x3
NM_000222.2(KIT):c.1017A>G (p.Ala339=) rs1253593989
NM_000222.2(KIT):c.1098G>A (p.Glu366=) rs1060504663
NM_000222.2(KIT):c.1173A>G (p.Thr391=) rs767377458
NM_000222.2(KIT):c.1199A>G (p.Asn400Ser) rs72549294
NM_000222.2(KIT):c.1207A>G (p.Ile403Val) rs878853759
NM_000222.2(KIT):c.1209A>T (p.Ile403=) rs1467087033
NM_000222.2(KIT):c.1279C>T (p.Gln427Ter) rs1306680919
NM_000222.2(KIT):c.1290A>G (p.Ala430=) rs55966164
NM_000222.2(KIT):c.1403C>T (p.Pro468Leu) rs200518498
NM_000222.2(KIT):c.1500T>C (p.Thr500=) rs1553891462
NM_000222.2(KIT):c.1506C>T (p.Ala502=) rs1060504652
NM_000222.2(KIT):c.1621A>C (p.Met541Leu) rs3822214
NM_000222.2(KIT):c.1641T>C (p.Tyr547=) rs746718824
NM_000222.2(KIT):c.166C>T (p.Leu56=) rs1060504651
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.1866A>G (p.Val622=) rs1287132024
NM_000222.2(KIT):c.2016T>C (p.Tyr672=) rs1060504653
NM_000222.2(KIT):c.2142-9C>T rs1553892553
NM_000222.2(KIT):c.2196C>G (p.Val732=) rs1060504655
NM_000222.2(KIT):c.2208C>A (p.Ala736=) rs375902940
NM_000222.2(KIT):c.2263G>A (p.Ala755Thr) rs201165084
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2448C>T (p.Asp816=) rs886043371
NM_000222.2(KIT):c.2591_2594del (p.Phe863_Ser864insTer) rs886042030
NM_000222.2(KIT):c.2592T>C (p.Ser864=) rs1060504664
NM_000222.2(KIT):c.2850G>C (p.Val950=) rs781142513
NM_000222.2(KIT):c.2862T>C (p.Ser954=) rs1553893817
NM_000222.2(KIT):c.2901C>T (p.Ser967=) rs1553893836
NM_000222.2(KIT):c.393C>T (p.Asp131=) rs1208138500
NM_000222.2(KIT):c.484T>G (p.Phe162Val) rs201222895
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000222.2(KIT):c.620-7A>G rs878853768
NM_000222.2(KIT):c.776A>G (p.Tyr259Cys) rs200422460
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000222.2(KIT):c.839C>T (p.Ala280Val) rs386833402
NM_000222.2(KIT):c.882T>C (p.Asn294=) rs765997309
NM_000222.2(KIT):c.910A>G (p.Thr304Ala) rs202052259
NM_000222.3(KIT):c.1002T>C (p.Ile334=) rs1577967223
NM_000222.3(KIT):c.1224T>C (p.Tyr408=) rs1403733672
NM_000222.3(KIT):c.1232-7C>T rs1577988561
NM_000222.3(KIT):c.1232-8T>G rs753790041
NM_000222.3(KIT):c.1347-7C>A rs1577992021
NM_000222.3(KIT):c.1347-8C>G rs1577992011
NM_000222.3(KIT):c.1413G>A (p.Lys471=) rs766943473
NM_000222.3(KIT):c.1440T>C (p.Ser480=) rs1577992342
NM_000222.3(KIT):c.144C>T (p.Val48=) rs1328080691
NM_000222.3(KIT):c.1488T>C (p.Asp496=) rs1577992515
NM_000222.3(KIT):c.1541-6T>C rs1577994260
NM_000222.3(KIT):c.1541-9C>G rs1577994237
NM_000222.3(KIT):c.1635C>T (p.Tyr545=) rs374123328
NM_000222.3(KIT):c.1648-10C>T rs1198418224
NM_000222.3(KIT):c.1648-6C>T rs1577994736
NM_000222.3(KIT):c.1775-8dup rs1577995749
NM_000222.3(KIT):c.1791T>C (p.Ala597=) rs1186816361
NM_000222.3(KIT):c.1880-8A>T rs1577996134
NM_000222.3(KIT):c.2091T>C (p.His697=) rs1473835741
NM_000222.3(KIT):c.210C>T (p.Ile70=) rs866645500
NM_000222.3(KIT):c.2142-8T>C rs1578000374
NM_000222.3(KIT):c.2190T>C (p.Tyr730=) rs761317949
NM_000222.3(KIT):c.2233+8C>A rs1578000584
NM_000222.3(KIT):c.2322C>T (p.Tyr774=) rs1578001425
NM_000222.3(KIT):c.2328G>A (p.Val776=) rs1578001457
NM_000222.3(KIT):c.2484+10C>T rs913288010
NM_000222.3(KIT):c.2499G>A (p.Val833=) rs1578007241
NM_000222.3(KIT):c.2803-7del rs1578009715
NM_000222.3(KIT):c.2853A>G (p.Val951=) rs1219291043
NM_000222.3(KIT):c.2871C>T (p.Ile957=) rs1578009941
NM_000222.3(KIT):c.2886C>T (p.Ser962=) rs767942133
NM_000222.3(KIT):c.444C>G (p.Leu148=) rs544555667
NM_000222.3(KIT):c.546C>T (p.Leu182=) rs1577957110
NM_000222.3(KIT):c.585G>A (p.Val195=) rs749677454
NM_000222.3(KIT):c.619+7G>A rs965912884
NM_000222.3(KIT):c.620-4C>G rs773216281
NM_000222.3(KIT):c.648G>A (p.Val216=) rs1396161786
NM_000222.3(KIT):c.67+10del rs1577898781
NM_000222.3(KIT):c.67+7C>G rs1577898767
NM_000222.3(KIT):c.67+9C>A rs377340910
NM_000222.3(KIT):c.68-8C>T rs776271778
NM_000222.3(KIT):c.699C>T (p.Cys233=) rs1182561091
NM_000222.3(KIT):c.711T>C (p.Asp237=) rs1577958757
NM_000222.3(KIT):c.72T>G (p.Ser24=) rs1577952329
NM_000222.3(KIT):c.774A>G (p.Lys258=) rs755490030
NM_000222.3(KIT):c.780T>C (p.Asn260=) rs1192922107
NM_000222.3(KIT):c.926-7T>C rs1577967039
NM_000222.3(KIT):c.951C>T (p.Pro317=) rs770676368
NM_000222.3(KIT):c.966A>T (p.Thr322=) rs895638079
NM_000222.3(KIT):c.96G>A (p.Gly32=) rs1577952444
NM_001093772.1(KIT):c.1528+12G>T rs1553891472

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