ClinVar Miner

List of variants in gene MITF reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*48T>C rs9863910 0.11996
NM_001354604.2(MITF):c.582+507C>T rs113310138 0.06363
NM_001354604.2(MITF):c.1179+217G>T rs9873727 0.05306
NM_001354604.2(MITF):c.354+327T>C rs9837137 0.04196
NM_001354604.2(MITF):c.355-194A>C rs74677075 0.03647
NM_001354604.2(MITF):c.354+297A>G rs9833046 0.02633
NM_001354604.2(MITF):c.104+24051C>T rs72950039 0.02478
NM_001354604.2(MITF):c.1180-188G>A rs76843627 0.02430
NM_001354604.2(MITF):c.104+244C>A rs45519135 0.02104
NM_001354604.2(MITF):c.667-109A>G rs28583802 0.01984
NM_001354604.2(MITF):c.880+261T>A rs79632363 0.01977
NM_001354604.2(MITF):c.582+126C>T rs113394882 0.01942
NM_001354604.2(MITF):c.1031+31T>C rs55754687 0.01821
NM_001354604.2(MITF):c.354+143G>A rs17006549 0.01761
NM_001354604.2(MITF):c.1180-254C>T rs79145610 0.01740
NM_001354604.2(MITF):c.330G>A (p.Thr110=) rs9849776 0.01619
NM_001354604.2(MITF):c.582+280C>T rs78545229 0.01434
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_001354604.2(MITF):c.582+491G>A rs145438735 0.00968
NM_001354604.2(MITF):c.104+23992G>T rs72950037 0.00895
NM_001354604.2(MITF):c.1031+199G>A rs114969115 0.00790
NM_001354604.2(MITF):c.956-209G>A rs140629558 0.00777
NM_001354604.2(MITF):c.355-829A>G rs73117325 0.00761
NM_001354604.2(MITF):c.762+232C>T rs79668299 0.00590
NM_001354604.2(MITF):c.1179+94C>T rs114827487 0.00566
NM_001354604.2(MITF):c.881-275G>C rs187584240 0.00549
NM_001354604.2(MITF):c.881-253A>G rs147960490 0.00397
NM_001354604.2(MITF):c.956-265T>A rs138878670 0.00275
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00210
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00092
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) rs142263283 0.00050
NM_001354604.2(MITF):c.881-7T>A rs200580325 0.00041
NM_001354604.2(MITF):c.1388C>A (p.Thr463Asn) rs560808156 0.00029
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001354604.2(MITF):c.1443G>A (p.Leu481=) rs150213411 0.00027
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe) rs145325518 0.00022
NM_001354604.2(MITF):c.667-3C>T rs376704147 0.00020
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00017
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe) rs371080525 0.00017
NM_001354604.2(MITF):c.881-6G>A rs752788538 0.00015
NM_001354604.2(MITF):c.882G>A (p.Ala294=) rs778126895 0.00011
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) rs368915509 0.00008
NM_001354604.2(MITF):c.1565C>T (p.Thr522Met) rs780036017 0.00008
NM_001354604.2(MITF):c.537C>T (p.Asn179=) rs150591206 0.00008
NM_001354604.2(MITF):c.654G>A (p.Ala218=) rs200769309 0.00008
NM_001354604.2(MITF):c.644A>T (p.His215Leu) rs761038653 0.00007
NM_001354604.2(MITF):c.761C>T (p.Thr254Met) rs201247895 0.00007
NM_001354604.2(MITF):c.1032-4G>A rs199779059 0.00006
NM_001354604.2(MITF):c.1384G>A (p.Gly462Arg) rs143537610 0.00006
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) rs200108255 0.00006
NM_001354604.2(MITF):c.667-7C>T rs201271211 0.00006
NM_001354604.2(MITF):c.1159C>T (p.His387Tyr) rs140374965 0.00005
NM_001354604.2(MITF):c.1229C>T (p.Thr410Met) rs369552358 0.00005
NM_001354604.2(MITF):c.1085G>A (p.Arg362Gln) rs537021332 0.00004
NM_001354604.2(MITF):c.1157G>A (p.Arg386Gln) rs775320252 0.00004
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001354604.2(MITF):c.1352C>T (p.Thr451Met) rs769488988 0.00004
NM_001354604.2(MITF):c.1515C>T (p.Pro505=) rs761127025 0.00004
NM_001354604.2(MITF):c.246G>A (p.Ala82=) rs542555095 0.00004
NM_001354604.2(MITF):c.632G>A (p.Gly211Asp) rs149249176 0.00004
NM_001354604.2(MITF):c.666+5T>C rs374067688 0.00004
NM_001354604.2(MITF):c.990C>T (p.Arg330=) rs147883651 0.00004
NM_001354604.2(MITF):c.1071C>T (p.Ser357=) rs149086403 0.00003
NM_001354604.2(MITF):c.1179+4C>T rs749869303 0.00003
NM_001354604.2(MITF):c.1180-6T>C rs202242500 0.00003
NM_001354604.2(MITF):c.1224A>T (p.Pro408=) rs765939413 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 0.00003
NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys) rs150995386 0.00003
NM_001354604.2(MITF):c.1502C>T (p.Ser501Phe) rs1465717485 0.00003
NM_001354604.2(MITF):c.513G>A (p.Pro171=) rs774998383 0.00003
NM_001354604.2(MITF):c.653C>T (p.Ala218Val) rs182533927 0.00003
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072 0.00003
NM_001354604.2(MITF):c.726G>C (p.Leu242Phe) rs200287806 0.00003
NM_001354604.2(MITF):c.752T>A (p.Met251Lys) rs1471650575 0.00003
NM_001354604.2(MITF):c.881-9C>G rs766938558 0.00003
NM_001354604.2(MITF):c.1040G>A (p.Arg347His) rs1195515853 0.00002
NM_001354604.2(MITF):c.1127A>T (p.Asn376Ile) rs749645437 0.00002
NM_001354604.2(MITF):c.1216C>T (p.Leu406Phe) rs772956737 0.00002
NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala) rs199992377 0.00002
NM_001354604.2(MITF):c.415G>A (p.Val139Ile) rs371031432 0.00002
NM_001354604.2(MITF):c.558G>A (p.Thr186=) rs1460798970 0.00002
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) rs768503905 0.00002
NM_001354604.2(MITF):c.650G>A (p.Arg217Gln) rs747126448 0.00002
NM_001354604.2(MITF):c.881C>T (p.Ala294Val) rs373945151 0.00002
NM_001354604.2(MITF):c.956-3A>T rs775489256 0.00002
NM_001354604.2(MITF):c.986A>G (p.Asp329Gly) rs141077757 0.00002
NM_000248.4(MITF):c.17A>G (p.Glu6Gly) rs1028159159 0.00001
NM_000248.4(MITF):c.19T>C (p.Tyr7His) rs2471579555 0.00001
NM_001354604.2(MITF):c.*1C>T rs773498863 0.00001
NM_001354604.2(MITF):c.*2G>A rs747391486 0.00001
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu) rs756923654 0.00001
NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly) rs372113245 0.00001
NM_001354604.2(MITF):c.1130G>A (p.Arg377Gln) rs542163629 0.00001
NM_001354604.2(MITF):c.1146G>A (p.Glu382=) rs779560468 0.00001
NM_001354604.2(MITF):c.1179+6C>T rs766118369 0.00001
NM_001354604.2(MITF):c.1199G>A (p.Arg400Gln) rs774249941 0.00001
NM_001354604.2(MITF):c.1258C>T (p.Arg420Trp) rs759306986 0.00001
NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe) rs760057624 0.00001
NM_001354604.2(MITF):c.1345G>A (p.Asp449Asn) rs868519483 0.00001
NM_001354604.2(MITF):c.1353G>A (p.Thr451=) rs774944729 0.00001
NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp) rs1196796728 0.00001
NM_001354604.2(MITF):c.1462G>A (p.Asp488Asn) rs753927745 0.00001
NM_001354604.2(MITF):c.1465A>T (p.Thr489Ser) rs1213442503 0.00001
NM_001354604.2(MITF):c.1474C>T (p.Pro492Ser) rs781298935 0.00001
NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile) rs748527966 0.00001
NM_001354604.2(MITF):c.1493C>T (p.Pro498Leu) rs1425262191 0.00001
NM_001354604.2(MITF):c.1507G>A (p.Val503Met) rs199578956 0.00001
NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln) rs1018390529 0.00001
NM_001354604.2(MITF):c.1581G>A (p.Ter527=) rs1388406920 0.00001
NM_001354604.2(MITF):c.370G>A (p.Glu124Lys) rs994568417 0.00001
NM_001354604.2(MITF):c.406C>T (p.Arg136Trp) rs200583343 0.00001
NM_001354604.2(MITF):c.471C>T (p.Ser157=) rs953396864 0.00001
NM_001354604.2(MITF):c.488A>C (p.Gln163Pro) rs780834582 0.00001
NM_001354604.2(MITF):c.496G>A (p.Asp166Asn) rs145387068 0.00001
NM_001354604.2(MITF):c.508C>A (p.Pro170Thr) rs2065882320 0.00001
NM_001354604.2(MITF):c.518C>T (p.Pro173Leu) rs141679911 0.00001
NM_001354604.2(MITF):c.520G>A (p.Gly174Arg) rs764874569 0.00001
NM_001354604.2(MITF):c.529G>A (p.Ala177Thr) rs760770591 0.00001
NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys) rs763827931 0.00001
NM_001354604.2(MITF):c.640A>T (p.Thr214Ser) rs1417678973 0.00001
NM_001354604.2(MITF):c.682G>A (p.Asp228Asn) rs765051386 0.00001
NM_001354604.2(MITF):c.739C>T (p.Pro247Ser) rs749465060 0.00001
NM_001354604.2(MITF):c.762G>A (p.Thr254=) rs368862508 0.00001
NM_001354604.2(MITF):c.776G>A (p.Gly259Glu) rs1246695187 0.00001
NM_001354604.2(MITF):c.804A>T (p.Gln268His) rs567842156 0.00001
NM_001354604.2(MITF):c.817C>G (p.Pro273Ala) rs201810369 0.00001
NM_001354604.2(MITF):c.818C>A (p.Pro273Gln) rs1382417583 0.00001
NM_001354604.2(MITF):c.823C>A (p.Leu275Ile) rs763339433 0.00001
NM_001354604.2(MITF):c.930G>A (p.Arg310=) rs755901867 0.00001
NM_001354604.2(MITF):c.962G>A (p.Arg321Gln) rs2066399994 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
NM_001354604.2(MITF):c.*1C>A
NM_001354604.2(MITF):c.*7C>G rs1276461945
NM_001354604.2(MITF):c.*9C>T
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1032-1G>C rs2107536775
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1039C>T (p.Arg347Cys) rs1559751245
NM_001354604.2(MITF):c.104+68C>G rs143204933
NM_001354604.2(MITF):c.1050G>A (p.Lys350=) rs201348324
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu) rs2107536936
NM_001354604.2(MITF):c.1056_1064delinsTATCTTAAG (p.Lys355Arg) rs2471655058
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1076A>C (p.Asp359Ala) rs2471655253
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1108C>T (p.Arg370Cys) rs372113245
NM_001354604.2(MITF):c.1111G>A (p.Ala371Thr) rs780721280
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001354604.2(MITF):c.1150G>T (p.Ala384Ser) rs202020443
NM_001354604.2(MITF):c.1156C>G (p.Arg386Gly) rs771113831
NM_001354604.2(MITF):c.1167G>T (p.Leu389Phe) rs2066485693
NM_001354604.2(MITF):c.1182A>T (p.Glu394Asp) rs137904015
NM_001354604.2(MITF):c.1198C>G (p.Arg400Gly) rs1464157509
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1201G>A (p.Ala401Thr) rs893988273
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1232G>T (p.Gly411Val) rs2107551923
NM_001354604.2(MITF):c.1244C>T (p.Pro415Leu) rs2107551959
NM_001354604.2(MITF):c.1276C>T (p.Pro426Ser) rs764672619
NM_001354604.2(MITF):c.1285G>C (p.Glu429Gln) rs756384799
NM_001354604.2(MITF):c.1290C>A (p.Asn430Lys) rs982952310
NM_001354604.2(MITF):c.1290C>G (p.Asn430Lys) rs982952310
NM_001354604.2(MITF):c.1291T>G (p.Cys431Gly) rs2471672165
NM_001354604.2(MITF):c.1304T>G (p.Leu435Arg) rs2471672228
NM_001354604.2(MITF):c.1321G>A (p.Asp441Asn)
NM_001354604.2(MITF):c.1328C>A (p.Thr443Asn)
NM_001354604.2(MITF):c.1330T>G (p.Cys444Gly) rs777788246
NM_001354604.2(MITF):c.1336A>G (p.Thr446Ala) rs2471672437
NM_001354604.2(MITF):c.1379A>T (p.Asn460Ile) rs751890826
NM_001354604.2(MITF):c.1385G>A (p.Gly462Glu)
NM_001354604.2(MITF):c.1388C>T (p.Thr463Ile) rs560808156
NM_001354604.2(MITF):c.1391G>T (p.Gly464Val) rs1297217487
NM_001354604.2(MITF):c.1392G>A (p.Gly464=) rs753959394
NM_001354604.2(MITF):c.1401C>T (p.Ala467=) rs2107552742
NM_001354604.2(MITF):c.1417G>A (p.Val473Ile) rs2107552828
NM_001354604.2(MITF):c.1431G>A (p.Met477Ile)
NM_001354604.2(MITF):c.1433G>A (p.Gly478Glu) rs200766286
NM_001354604.2(MITF):c.1433G>C (p.Gly478Ala) rs200766286
NM_001354604.2(MITF):c.1462G>C (p.Asp488His)
NM_001354604.2(MITF):c.1477G>A (p.Val493Ile) rs756044021
NM_001354604.2(MITF):c.1477G>C (p.Val493Leu) rs756044021
NM_001354604.2(MITF):c.1492C>G (p.Pro498Ala) rs1414338937
NM_001354604.2(MITF):c.1516G>A (p.Gly506Arg) rs531830542
NM_001354604.2(MITF):c.1516G>C (p.Gly506Arg) rs531830542
NM_001354604.2(MITF):c.1536C>T (p.Ser512=)
NM_001354604.2(MITF):c.1541G>A (p.Arg514Lys) rs2107553612
NM_001354604.2(MITF):c.1558G>A (p.Glu520Lys) rs1193602968
NM_001354604.2(MITF):c.355-857dup rs79472179
NM_001354604.2(MITF):c.384G>A (p.Lys128=) rs1405436628
NM_001354604.2(MITF):c.394C>G (p.Gln132Glu) rs201297175
NM_001354604.2(MITF):c.450A>T (p.Lys150Asn) rs777666331
NM_001354604.2(MITF):c.451C>T (p.His151Tyr) rs1211642663
NM_001354604.2(MITF):c.452A>C (p.His151Pro) rs1576004813
NM_001354604.2(MITF):c.454G>A (p.Ala152Thr)
NM_001354604.2(MITF):c.482C>A (p.Pro161Gln)
NM_001354604.2(MITF):c.483A>T (p.Pro161=) rs1252317154
NM_001354604.2(MITF):c.484A>C (p.Asn162His) rs2107479313
NM_001354604.2(MITF):c.489G>A (p.Gln163=)
NM_001354604.2(MITF):c.490C>T (p.Pro164Ser)
NM_001354604.2(MITF):c.493G>C (p.Gly165Arg) rs1179298440
NM_001354604.2(MITF):c.495C>T (p.Gly165=) rs373840246
NM_001354604.2(MITF):c.505A>C (p.Met169Leu) rs143224466
NM_001354604.2(MITF):c.505A>G (p.Met169Val) rs143224466
NM_001354604.2(MITF):c.528C>T (p.Ser176=) rs1275245059
NM_001354604.2(MITF):c.557C>T (p.Thr186Met)
NM_001354604.2(MITF):c.564C>A (p.Asn188Lys) rs2065884863
NM_001354604.2(MITF):c.583-3C>A rs1293160128
NM_001354604.2(MITF):c.583-9T>C rs1576007776
NM_001354604.2(MITF):c.589T>G (p.Tyr197Asp) rs2471591110
NM_001354604.2(MITF):c.605A>C (p.Gln202Pro)
NM_001354604.2(MITF):c.619A>G (p.Ser207Gly) rs2065909873
NM_001354604.2(MITF):c.620G>A (p.Ser207Asn)
NM_001354604.2(MITF):c.634A>G (p.Met212Val) rs2471591463
NM_001354604.2(MITF):c.639C>G (p.Asn213Lys) rs137944487
NM_001354604.2(MITF):c.639C>T (p.Asn213=) rs137944487
NM_001354604.2(MITF):c.645T>G (p.His215Gln) rs2065911124
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.666+119dup rs373274886
NM_001354604.2(MITF):c.667A>G (p.Met223Val) rs987892243
NM_001354604.2(MITF):c.674A>G (p.Asp225Gly) rs760625551
NM_001354604.2(MITF):c.732G>C (p.Leu244Phe)
NM_001354604.2(MITF):c.736G>A (p.Asp246Asn) rs869025259
NM_001354604.2(MITF):c.737A>G (p.Asp246Gly) rs2107490728
NM_001354604.2(MITF):c.738T>G (p.Asp246Glu) rs372810045
NM_001354604.2(MITF):c.751A>G (p.Met251Val) rs2471598540
NM_001354604.2(MITF):c.770T>A (p.Val257Asp) rs2107511139
NM_001354604.2(MITF):c.773C>T (p.Ser258Leu) rs142900294
NM_001354604.2(MITF):c.815del (p.Pro272fs) rs2471621034
NM_001354604.2(MITF):c.821G>A (p.Gly274Asp)
NM_001354604.2(MITF):c.823C>G (p.Leu275Val)
NM_001354604.2(MITF):c.830T>G (p.Ile277Ser) rs2107511408
NM_001354604.2(MITF):c.833G>A (p.Ser278Asn)
NM_001354604.2(MITF):c.850A>C (p.Asn284His) rs2471621326
NM_001354604.2(MITF):c.851A>C (p.Asn284Thr) rs1553703665
NM_001354604.2(MITF):c.862A>C (p.Ile288Leu) rs1461382408
NM_001354604.2(MITF):c.881-227dup rs144606735
NM_001354604.2(MITF):c.881-9C>T rs766938558
NM_001354604.2(MITF):c.881C>A (p.Ala294Glu)
NM_001354604.2(MITF):c.884G>A (p.Cys295Tyr) rs2471630050
NM_001354604.2(MITF):c.895A>T (p.Thr299Ser)
NM_001354604.2(MITF):c.917T>C (p.Leu306Pro)
NM_001354604.2(MITF):c.931C>T (p.Gln311Ter) rs1559745185
NM_001354604.2(MITF):c.947A>G (p.His316Arg) rs1553704093
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.955+1G>A
NM_001354604.2(MITF):c.956T>G (p.Ile319Ser) rs2471644439
NM_001354604.2(MITF):c.958G>C (p.Glu320Gln) rs1057522775
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.965G>A (p.Arg322Lys) rs2066400155

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