ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 174
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*556T>C rs573364713 0.00100
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_001354604.2(MITF):c.881-7T>A rs200580325 0.00041
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe) rs371080525 0.00020
NM_001354604.2(MITF):c.329C>T (p.Thr110Met) rs190215588 0.00019
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001354604.2(MITF):c.881-6G>A rs752788538 0.00016
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.644A>T (p.His215Leu) rs761038653 0.00007
NM_001354604.2(MITF):c.761C>T (p.Thr254Met) rs201247895 0.00007
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.1157G>A (p.Arg386Gln) rs775320252 0.00004
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001354604.2(MITF):c.666+5T>C rs374067688 0.00004
NM_001354604.2(MITF):c.1085G>A (p.Arg362Gln) rs537021332 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 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.1216C>T (p.Leu406Phe) rs772956737 0.00002
NM_001354604.2(MITF):c.415G>A (p.Val139Ile) rs371031432 0.00002
NM_001354604.2(MITF):c.726G>C (p.Leu242Phe) rs200287806 0.00002
NM_001354604.2(MITF):c.881C>T (p.Ala294Val) rs373945151 0.00002
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.1199G>A (p.Arg400Gln) rs774249941 0.00001
NM_001354604.2(MITF):c.1462G>A (p.Asp488Asn) rs753927745 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.1507G>A (p.Val503Met) rs199578956 0.00001
NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln) rs1018390529 0.00001
NM_001354604.2(MITF):c.471C>T (p.Ser157=) rs953396864 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.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001354604.2(MITF):c.640A>T (p.Thr214Ser) rs1417678973 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.997G>A (p.Glu333Lys) rs147682682 0.00001
GRCh37/hg19 3p13(chr3:69821345-69874928)x1
GRCh37/hg19 3p13(chr3:69874997-69901170)x1
GRCh37/hg19 3p14.1-13(chr3:69609107-69870154)x3
NM_000248.4(MITF):c.17A>G (p.Glu6Gly)
NM_000248.4(MITF):c.19T>C (p.Tyr7His)
NM_001354604.2(MITF):c.*1C>A
NM_001354604.2(MITF):c.*1C>T
NM_001354604.2(MITF):c.*2G>A
NM_001354604.2(MITF):c.*7C>G
NM_001354604.2(MITF):c.*9C>T
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+24240del rs1219017631
NM_001354604.2(MITF):c.1040G>A (p.Arg347His) rs1195515853
NM_001354604.2(MITF):c.1056_1064delinsTATCTTAAG (p.Lys355Arg)
NM_001354604.2(MITF):c.1061T>C (p.Leu354Ser) rs2107537021
NM_001354604.2(MITF):c.1076A>C (p.Asp359Ala)
NM_001354604.2(MITF):c.1108C>T (p.Arg370Cys)
NM_001354604.2(MITF):c.1111G>A (p.Ala371Thr) rs780721280
NM_001354604.2(MITF):c.1127A>T (p.Asn376Ile)
NM_001354604.2(MITF):c.1130G>A (p.Arg377Gln)
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)
NM_001354604.2(MITF):c.1167G>T (p.Leu389Phe)
NM_001354604.2(MITF):c.1182A>T (p.Glu394Asp)
NM_001354604.2(MITF):c.1198C>G (p.Arg400Gly) rs1464157509
NM_001354604.2(MITF):c.1201G>A (p.Ala401Thr)
NM_001354604.2(MITF):c.1232G>T (p.Gly411Val)
NM_001354604.2(MITF):c.1244C>T (p.Pro415Leu) rs2107551959
NM_001354604.2(MITF):c.1258C>T (p.Arg420Trp)
NM_001354604.2(MITF):c.1276C>T (p.Pro426Ser)
NM_001354604.2(MITF):c.1285G>C (p.Glu429Gln)
NM_001354604.2(MITF):c.1290C>A (p.Asn430Lys)
NM_001354604.2(MITF):c.1290C>G (p.Asn430Lys)
NM_001354604.2(MITF):c.1291T>G (p.Cys431Gly)
NM_001354604.2(MITF):c.1304T>G (p.Leu435Arg)
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)
NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe)
NM_001354604.2(MITF):c.1336A>G (p.Thr446Ala)
NM_001354604.2(MITF):c.1345G>A (p.Asp449Asn) rs868519483
NM_001354604.2(MITF):c.1352C>T (p.Thr451Met)
NM_001354604.2(MITF):c.1353G>A (p.Thr451=)
NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp)
NM_001354604.2(MITF):c.1379A>T (p.Asn460Ile)
NM_001354604.2(MITF):c.1385G>A (p.Gly462Glu)
NM_001354604.2(MITF):c.1391G>T (p.Gly464Val) rs1297217487
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)
NM_001354604.2(MITF):c.1433G>C (p.Gly478Ala) rs200766286
NM_001354604.2(MITF):c.1462G>C (p.Asp488His)
NM_001354604.2(MITF):c.1465A>T (p.Thr489Ser)
NM_001354604.2(MITF):c.1477G>A (p.Val493Ile) rs756044021
NM_001354604.2(MITF):c.1477G>C (p.Val493Leu)
NM_001354604.2(MITF):c.1486A>G (p.Thr496Ala) rs2107553278
NM_001354604.2(MITF):c.1492C>G (p.Pro498Ala)
NM_001354604.2(MITF):c.1493C>T (p.Pro498Leu)
NM_001354604.2(MITF):c.1502C>T (p.Ser501Phe)
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.1517G>A (p.Gly506Glu) rs548265796
NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del) rs1576071470
NM_001354604.2(MITF):c.1536C>T (p.Ser512=)
NM_001354604.2(MITF):c.1541G>A (p.Arg514Lys)
NM_001354604.2(MITF):c.1558G>A (p.Glu520Lys)
NM_001354604.2(MITF):c.1581G>A (p.Ter527=)
NM_001354604.2(MITF):c.370G>A (p.Glu124Lys)
NM_001354604.2(MITF):c.384G>A (p.Lys128=) rs1405436628
NM_001354604.2(MITF):c.394C>G (p.Gln132Glu)
NM_001354604.2(MITF):c.406C>T (p.Arg136Trp)
NM_001354604.2(MITF):c.450A>T (p.Lys150Asn)
NM_001354604.2(MITF):c.451C>T (p.His151Tyr) rs1211642663
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=)
NM_001354604.2(MITF):c.484A>C (p.Asn162His) rs2107479313
NM_001354604.2(MITF):c.488A>C (p.Gln163Pro)
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)
NM_001354604.2(MITF):c.496G>A (p.Asp166Asn)
NM_001354604.2(MITF):c.505A>C (p.Met169Leu)
NM_001354604.2(MITF):c.508C>A (p.Pro170Thr) rs2065882320
NM_001354604.2(MITF):c.518C>T (p.Pro173Leu)
NM_001354604.2(MITF):c.520G>A (p.Gly174Arg)
NM_001354604.2(MITF):c.557C>T (p.Thr186Met)
NM_001354604.2(MITF):c.564C>A (p.Asn188Lys)
NM_001354604.2(MITF):c.582+307T>G rs1280700007
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)
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)
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)
NM_001354604.2(MITF):c.650G>A (p.Arg217Gln)
NM_001354604.2(MITF):c.653C>T (p.Ala218Val)
NM_001354604.2(MITF):c.667A>G (p.Met223Val)
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072
NM_001354604.2(MITF):c.674A>G (p.Asp225Gly) rs760625551
NM_001354604.2(MITF):c.682G>A (p.Asp228Asn)
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)
NM_001354604.2(MITF):c.751A>G (p.Met251Val)
NM_001354604.2(MITF):c.762G>A (p.Thr254=)
NM_001354604.2(MITF):c.770T>A (p.Val257Asp) rs2107511139
NM_001354604.2(MITF):c.773C>T (p.Ser258Leu)
NM_001354604.2(MITF):c.776G>A (p.Gly259Glu)
NM_001354604.2(MITF):c.804A>T (p.Gln268His)
NM_001354604.2(MITF):c.817C>G (p.Pro273Ala)
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)
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.881-9C>T rs766938558
NM_001354604.2(MITF):c.881C>A (p.Ala294Glu)
NM_001354604.2(MITF):c.884G>A (p.Cys295Tyr)
NM_001354604.2(MITF):c.895A>T (p.Thr299Ser)
NM_001354604.2(MITF):c.917T>C (p.Leu306Pro)
NM_001354604.2(MITF):c.965G>A (p.Arg322Lys)
NM_001354604.2(MITF):c.986A>G (p.Asp329Gly)
NM_001354604.2(MITF):c.989G>T (p.Arg330Leu) rs763119975

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.