ClinVar Miner

List of variants in gene MITF studied for Waardenburg syndrome type 2A

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 512
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*2068C>T rs576 0.33688
NM_001354604.2(MITF):c.*2505C>T rs704246 0.29266
NM_001354604.2(MITF):c.*48T>C rs9863910 0.11996
NM_001354604.2(MITF):c.*1248T>C rs2131025 0.07575
NM_001354604.2(MITF):c.*824T>A rs114659118 0.02066
NM_001354604.2(MITF):c.*2458G>A rs77962238 0.01521
NM_001354604.2(MITF):c.*1150T>C rs150314710 0.01496
NM_001354604.2(MITF):c.*2170A>G rs78240629 0.01047
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_001354604.2(MITF):c.*2580C>T rs139487027 0.00303
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001354604.2(MITF):c.*836G>T rs558793046 0.00194
NM_001354604.2(MITF):c.*2924C>T rs151043552 0.00174
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001354604.2(MITF):c.*3033A>G rs139770177 0.00150
NM_001354604.2(MITF):c.*1941A>G rs192503700 0.00100
NM_001354604.2(MITF):c.*556T>C rs573364713 0.00100
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_001354604.2(MITF):c.*379T>C rs552044239 0.00071
NM_001354604.2(MITF):c.*228C>T rs190540926 0.00069
NM_001354604.2(MITF):c.*1570C>T rs528276006 0.00055
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) rs142263283 0.00050
NM_001354604.2(MITF):c.*1502A>T rs766340943 0.00043
NM_001354604.2(MITF):c.*1491A>G rs80212793 0.00042
NM_001354604.2(MITF):c.881-7T>A rs200580325 0.00041
NM_001354604.2(MITF):c.*2881C>T rs575491126 0.00039
NM_001354604.2(MITF):c.*2588G>A rs559658244 0.00035
NM_001354604.2(MITF):c.*286G>A rs187361634 0.00029
NM_001354604.2(MITF):c.1388C>A (p.Thr463Asn) rs560808156 0.00029
NM_001354604.2(MITF):c.*235T>C rs183031244 0.00028
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 0.00021
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001354604.2(MITF):c.*2673T>G rs75204045 0.00017
NM_001354604.2(MITF):c.881-6G>A rs752788538 0.00016
NM_001354604.2(MITF):c.*1380A>G rs560413518 0.00015
NM_001354604.2(MITF):c.*12T>C rs201375960 0.00012
NM_001354604.2(MITF):c.666+15G>C rs201698367 0.00012
NM_001354604.2(MITF):c.882G>A (p.Ala294=) rs778126895 0.00011
NM_001354604.2(MITF):c.*3060C>T rs768539283 0.00009
NM_001354604.2(MITF):c.*524T>G rs769353314 0.00009
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.*802A>T rs190223113 0.00007
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
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.*2077G>T rs886058816 0.00006
NM_001354604.2(MITF):c.*2753T>C rs886058819 0.00006
NM_001354604.2(MITF):c.1032-4G>A rs199779059 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.*1893C>T rs886058815 0.00005
NM_001354604.2(MITF):c.*2868T>C rs529623175 0.00005
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.1384G>A (p.Gly462Arg) rs143537610 0.00005
NM_001354604.2(MITF):c.*1666T>G rs995848515 0.00004
NM_001354604.2(MITF):c.1157G>A (p.Arg386Gln) rs775320252 0.00004
NM_001354604.2(MITF):c.1180-6T>C rs202242500 0.00004
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001354604.2(MITF):c.1494A>C (p.Pro498=) rs777982903 0.00004
NM_001354604.2(MITF):c.1515C>T (p.Pro505=) rs761127025 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.*1933C>T rs555688827 0.00003
NM_001354604.2(MITF):c.1031+15G>A rs144757214 0.00003
NM_001354604.2(MITF):c.1071C>T (p.Ser357=) rs149086403 0.00003
NM_001354604.2(MITF):c.1085G>A (p.Arg362Gln) rs537021332 0.00003
NM_001354604.2(MITF):c.1146G>A (p.Glu382=) rs779560468 0.00003
NM_001354604.2(MITF):c.1179+4C>T rs749869303 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 0.00003
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_001354604.2(MITF):c.513G>A (p.Pro171=) rs774998383 0.00003
NM_001354604.2(MITF):c.881-9C>G rs766938558 0.00003
NM_001354604.2(MITF):c.*447C>A rs546175299 0.00002
NM_001354604.2(MITF):c.1180-11T>C rs538450872 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.1396G>A (p.Glu466Lys) rs150995386 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.726G>C (p.Leu242Phe) rs200287806 0.00002
NM_001354604.2(MITF):c.881C>T (p.Ala294Val) rs373945151 0.00002
NM_001354604.2(MITF):c.*1101G>A rs557878790 0.00001
NM_001354604.2(MITF):c.*1120C>A rs544152010 0.00001
NM_001354604.2(MITF):c.*115C>T rs886058809 0.00001
NM_001354604.2(MITF):c.*2079A>C rs886058817 0.00001
NM_001354604.2(MITF):c.*2160A>G rs551574413 0.00001
NM_001354604.2(MITF):c.*23C>T rs746168511 0.00001
NM_001354604.2(MITF):c.*2632C>T rs984300026 0.00001
NM_001354604.2(MITF):c.*2807G>A rs938427203 0.00001
NM_001354604.2(MITF):c.*2952T>C rs2066737952 0.00001
NM_001354604.2(MITF):c.*309T>C rs1268402530 0.00001
NM_001354604.2(MITF):c.*421G>T rs886058812 0.00001
NM_001354604.2(MITF):c.*486G>A rs563236295 0.00001
NM_001354604.2(MITF):c.*662T>C rs886058813 0.00001
NM_001354604.2(MITF):c.*810T>A rs987275102 0.00001
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu) rs756923654 0.00001
NM_001354604.2(MITF):c.1056C>T (p.Thr352=) rs766006413 0.00001
NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg) rs751147980 0.00001
NM_001354604.2(MITF):c.1149C>T (p.His383=) rs748181332 0.00001
NM_001354604.2(MITF):c.1179+14G>A rs370391171 0.00001
NM_001354604.2(MITF):c.1179+15T>C rs748644115 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.1474C>T (p.Pro492Ser) rs781298935 0.00001
NM_001354604.2(MITF):c.1476C>T (p.Pro492=) rs745749254 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.355-1062G>C rs1236436555 0.00001
NM_001354604.2(MITF):c.355-8A>G rs876657867 0.00001
NM_001354604.2(MITF):c.407G>A (p.Arg136Gln) rs750608171 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.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001354604.2(MITF):c.640A>T (p.Thr214Ser) rs1417678973 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.989G>A (p.Arg330His) rs763119975 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
NC_000003.11:g.(?_69985874)_(69990502_?)del
NC_000003.11:g.(?_69985874)_(70014399_?)del
NC_000003.11:g.(?_69985874)_(70014399_?)dup
NC_000003.11:g.(?_69987065)_(69997137_?)del
NC_000003.11:g.(?_70013978)_(70014399_?)del
NC_000003.11:g.(?_70013978)_(70014399_?)dup
NM_000248.4(MITF):c.13dup (p.Leu5fs)
NM_000248.4(MITF):c.17A>G (p.Glu6Gly)
NM_000248.4(MITF):c.19T>C (p.Tyr7His)
NM_000248.4(MITF):c.24T>A (p.Asn8Lys)
NM_000248.4(MITF):c.26A>T (p.His9Leu)
NM_000248.4(MITF):c.28T>A (p.Tyr10Asn)
NM_000248.4(MITF):c.29A>G (p.Tyr10Cys)
NM_000248.4(MITF):c.31C>T (p.Gln11Ter)
NM_000248.4(MITF):c.33+1G>A rs1553701477
NM_000248.4(MITF):c.33+2T>C
NM_000248.4(MITF):c.33_33+6del
NM_001354604.2(MITF):c.*1270G>A rs137975240
NM_001354604.2(MITF):c.*1770C>T rs2066705119
NM_001354604.2(MITF):c.*1869G>T rs886058814
NM_001354604.2(MITF):c.*1934G>T rs572298352
NM_001354604.2(MITF):c.*2029A>T rs571540517
NM_001354604.2(MITF):c.*2140T>C rs2066715422
NM_001354604.2(MITF):c.*2275G>A rs550114890
NM_001354604.2(MITF):c.*2294A>G rs1576076650
NM_001354604.2(MITF):c.*24G>A rs375847754
NM_001354604.2(MITF):c.*2552A>G rs146395033
NM_001354604.2(MITF):c.*2831A>G rs2066734484
NM_001354604.2(MITF):c.*2892C>T rs1041442510
NM_001354604.2(MITF):c.*2918C>G rs2066737398
NM_001354604.2(MITF):c.*442A>G rs1222694868
NM_001354604.2(MITF):c.*581G>A rs930647904
NM_001354604.2(MITF):c.*75G>T rs2066664856
NM_001354604.2(MITF):c.*857C>G rs575556062
NM_001354604.2(MITF):c.*857C>T rs575556062
NM_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1001T>C (p.Leu334Pro)
NM_001354604.2(MITF):c.1002A>G (p.Leu334=)
NM_001354604.2(MITF):c.1003G>A (p.Gly335Ser)
NM_001354604.2(MITF):c.1011G>A (p.Leu337=)
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+12C>A
NM_001354604.2(MITF):c.1031+12C>T
NM_001354604.2(MITF):c.1031+13G>A
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1031+5G>A
NM_001354604.2(MITF):c.1032-14C>A
NM_001354604.2(MITF):c.1032-14C>T
NM_001354604.2(MITF):c.1032-15C>G
NM_001354604.2(MITF):c.1032-16T>C
NM_001354604.2(MITF):c.1032-17C>G
NM_001354604.2(MITF):c.1032-19T>C
NM_001354604.2(MITF):c.1032-5C>T
NM_001354604.2(MITF):c.1032-7A>G
NM_001354604.2(MITF):c.1036A>G (p.Met346Val)
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1040G>A (p.Arg347His) rs1195515853
NM_001354604.2(MITF):c.1044dup (p.Asn349fs) rs2066481098
NM_001354604.2(MITF):c.1045A>T (p.Asn349Tyr)
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.1055C>T (p.Thr352Ile)
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter) rs2107537021
NM_001354604.2(MITF):c.1068A>G (p.Ala356=)
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1074G>C (p.Val358=)
NM_001354604.2(MITF):c.1080T>C (p.Tyr360=)
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.1099G>C (p.Glu367Gln)
NM_001354604.2(MITF):c.1104G>A (p.Gln368=)
NM_001354604.2(MITF):c.1108C>T (p.Arg370Cys)
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.1130G>A (p.Arg377Gln)
NM_001354604.2(MITF):c.1131A>G (p.Arg377=)
NM_001354604.2(MITF):c.1134G>C (p.Gln378His)
NM_001354604.2(MITF):c.1137G>A (p.Lys379=)
NM_001354604.2(MITF):c.1137G>T (p.Lys379Asn)
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
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.1164G>C (p.Leu388Phe)
NM_001354604.2(MITF):c.1179+11T>C
NM_001354604.2(MITF):c.1179+3A>G
NM_001354604.2(MITF):c.1179+5G>A rs554738793
NM_001354604.2(MITF):c.1179+7A>G
NM_001354604.2(MITF):c.1180-10C>G
NM_001354604.2(MITF):c.1180-12C>T
NM_001354604.2(MITF):c.1180-14T>C
NM_001354604.2(MITF):c.1180-15T>G
NM_001354604.2(MITF):c.1180-17C>G
NM_001354604.2(MITF):c.1180-4A>G
NM_001354604.2(MITF):c.1180-5T>C
NM_001354604.2(MITF):c.1180-7A>G
NM_001354604.2(MITF):c.1180-7A>T
NM_001354604.2(MITF):c.1180-8T>A
NM_001354604.2(MITF):c.1180G>A (p.Glu394Lys)
NM_001354604.2(MITF):c.1182A>T (p.Glu394Asp)
NM_001354604.2(MITF):c.1192C>G (p.Gln398Glu)
NM_001354604.2(MITF):c.1196C>T (p.Ala399Val)
NM_001354604.2(MITF):c.1198C>A (p.Arg400=)
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.1205A>C (p.His402Pro)
NM_001354604.2(MITF):c.1205A>T (p.His402Leu)
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1210C>T (p.Leu404Phe)
NM_001354604.2(MITF):c.1228A>G (p.Thr410Ala)
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1237T>A (p.Cys413Ser)
NM_001354604.2(MITF):c.1241C>A (p.Ser414Tyr)
NM_001354604.2(MITF):c.1253T>C (p.Val418Ala)
NM_001354604.2(MITF):c.1265T>C (p.Ile422Thr)
NM_001354604.2(MITF):c.1267A>G (p.Lys423Glu)
NM_001354604.2(MITF):c.1271A>G (p.Gln424Arg)
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) rs149617956
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer) rs2107552061
NM_001354604.2(MITF):c.1276C>T (p.Pro426Ser)
NM_001354604.2(MITF):c.1279G>A (p.Val427Ile)
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.1291dup (p.Cys431fs) rs2107552171
NM_001354604.2(MITF):c.1296C>T (p.Ser432=)
NM_001354604.2(MITF):c.1303C>G (p.Leu435Val)
NM_001354604.2(MITF):c.1306C>T (p.Leu436Phe)
NM_001354604.2(MITF):c.1313A>G (p.His438Arg)
NM_001354604.2(MITF):c.1315C>G (p.His439Asp)
NM_001354604.2(MITF):c.1317T>C (p.His439=)
NM_001354604.2(MITF):c.1320A>T (p.Ala440=) rs886058808
NM_001354604.2(MITF):c.1330T>C (p.Cys444Arg)
NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe)
NM_001354604.2(MITF):c.1344C>T (p.Leu448=)
NM_001354604.2(MITF):c.1345G>A (p.Asp449Asn) rs868519483
NM_001354604.2(MITF):c.1350C>T (p.Leu450=) rs555549121
NM_001354604.2(MITF):c.1351A>G (p.Thr451Ala)
NM_001354604.2(MITF):c.1352C>T (p.Thr451Met)
NM_001354604.2(MITF):c.1353G>A (p.Thr451=)
NM_001354604.2(MITF):c.1353G>T (p.Thr451=)
NM_001354604.2(MITF):c.1370T>C (p.Phe457Ser)
NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp)
NM_001354604.2(MITF):c.1377del (p.Asn459fs) rs2066652447
NM_001354604.2(MITF):c.1379A>T (p.Asn460Ile)
NM_001354604.2(MITF):c.1383C>T (p.Leu461=)
NM_001354604.2(MITF):c.1388C>T (p.Thr463Ile)
NM_001354604.2(MITF):c.1393A>T (p.Thr465Ser)
NM_001354604.2(MITF):c.1396G>C (p.Glu466Gln)
NM_001354604.2(MITF):c.1398G>A (p.Glu466=)
NM_001354604.2(MITF):c.1401C>T (p.Ala467=) rs2107552742
NM_001354604.2(MITF):c.1404C>T (p.Asn468=)
NM_001354604.2(MITF):c.1409C>A (p.Ala470Asp)
NM_001354604.2(MITF):c.1416T>C (p.Ser472=)
NM_001354604.2(MITF):c.1420C>T (p.Pro474Ser)
NM_001354604.2(MITF):c.1425A>G (p.Thr475=)
NM_001354604.2(MITF):c.1433G>A (p.Gly478Glu)
NM_001354604.2(MITF):c.1433G>C (p.Gly478Ala) rs200766286
NM_001354604.2(MITF):c.1440A>T (p.Lys480Asn)
NM_001354604.2(MITF):c.1442T>C (p.Leu481Pro)
NM_001354604.2(MITF):c.1451T>C (p.Ile484Thr)
NM_001354604.2(MITF):c.1454T>C (p.Leu485Pro)
NM_001354604.2(MITF):c.1456A>G (p.Met486Val)
NM_001354604.2(MITF):c.1461C>T (p.Asp487=)
NM_001354604.2(MITF):c.1463A>G (p.Asp488Gly)
NM_001354604.2(MITF):c.1464C>T (p.Asp488=)
NM_001354604.2(MITF):c.1466C>G (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.1479C>T (p.Val493=)
NM_001354604.2(MITF):c.1480G>A (p.Gly494Ser)
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.1506A>G (p.Ser502=)
NM_001354604.2(MITF):c.1511C>G (p.Ser504Cys)
NM_001354604.2(MITF):c.1513C>T (p.Pro505Ser)
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.1537C>A (p.Arg513=)
NM_001354604.2(MITF):c.1537C>G (p.Arg513Gly)
NM_001354604.2(MITF):c.1541G>A (p.Arg514Lys)
NM_001354604.2(MITF):c.1542G>A (p.Arg514=)
NM_001354604.2(MITF):c.1545C>A (p.Ser515Arg)
NM_001354604.2(MITF):c.1551G>A (p.Met517Ile)
NM_001354604.2(MITF):c.1553G>A (p.Ser518Asn)
NM_001354604.2(MITF):c.1557G>C (p.Met519Ile)
NM_001354604.2(MITF):c.1558G>A (p.Glu520Lys)
NM_001354604.2(MITF):c.1570C>A (p.His524Asn)
NM_001354604.2(MITF):c.1574C>T (p.Thr525Ile)
NM_001354604.2(MITF):c.1578T>C (p.Cys526=)
NM_001354604.2(MITF):c.1581G>A (p.Ter527=)
NM_001354604.2(MITF):c.355-1048C>T
NM_001354604.2(MITF):c.355-1049T>C
NM_001354604.2(MITF):c.355-1050C>A
NM_001354604.2(MITF):c.355-1050C>T
NM_001354604.2(MITF):c.355-1052G>A
NM_001354604.2(MITF):c.355-1057A>T
NM_001354604.2(MITF):c.355-10_355-6del
NM_001354604.2(MITF):c.355-15C>T
NM_001354604.2(MITF):c.355-18C>T
NM_001354604.2(MITF):c.355-5T>C
NM_001354604.2(MITF):c.355-7T>C
NM_001354604.2(MITF):c.364C>A (p.His122Asn)
NM_001354604.2(MITF):c.367del (p.Leu123fs)
NM_001354604.2(MITF):c.369C>T (p.Leu123=)
NM_001354604.2(MITF):c.370G>A (p.Glu124Lys)
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) rs2107478777
NM_001354604.2(MITF):c.394C>G (p.Gln132Glu)
NM_001354604.2(MITF):c.395A>T (p.Gln132Leu)
NM_001354604.2(MITF):c.406C>T (p.Arg136Trp)
NM_001354604.2(MITF):c.422A>G (p.Gln141Arg)
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
NM_001354604.2(MITF):c.450A>T (p.Lys150Asn)
NM_001354604.2(MITF):c.452A>G (p.His151Arg)
NM_001354604.2(MITF):c.470G>A (p.Ser157Asn)
NM_001354604.2(MITF):c.475C>T (p.Pro159Ser)
NM_001354604.2(MITF):c.484A>C (p.Asn162His) rs2107479313
NM_001354604.2(MITF):c.486C>A (p.Asn162Lys)
NM_001354604.2(MITF):c.493G>A (p.Gly165Ser)
NM_001354604.2(MITF):c.493G>C (p.Gly165Arg)
NM_001354604.2(MITF):c.494G>T (p.Gly165Val)
NM_001354604.2(MITF):c.495C>G (p.Gly165=)
NM_001354604.2(MITF):c.495C>T (p.Gly165=) rs373840246
NM_001354604.2(MITF):c.496G>A (p.Asp166Asn)
NM_001354604.2(MITF):c.505A>C (p.Met169Leu)
NM_001354604.2(MITF):c.505A>G (p.Met169Val) rs143224466
NM_001354604.2(MITF):c.508C>A (p.Pro170Thr) rs2065882320
NM_001354604.2(MITF):c.511C>A (p.Pro171Thr)
NM_001354604.2(MITF):c.512C>T (p.Pro171Leu)
NM_001354604.2(MITF):c.518C>T (p.Pro173Leu)
NM_001354604.2(MITF):c.519G>A (p.Pro173=)
NM_001354604.2(MITF):c.520G>A (p.Gly174Arg)
NM_001354604.2(MITF):c.528C>T (p.Ser176=) rs1275245059
NM_001354604.2(MITF):c.531A>G (p.Ala177=) rs1193795003
NM_001354604.2(MITF):c.540C>A (p.Ser180Arg)
NM_001354604.2(MITF):c.543C>T (p.Pro181=)
NM_001354604.2(MITF):c.544A>C (p.Met182Leu)
NM_001354604.2(MITF):c.550A>C (p.Met184Leu)
NM_001354604.2(MITF):c.564C>A (p.Asn188Lys)
NM_001354604.2(MITF):c.580G>A (p.Glu194Lys)
NM_001354604.2(MITF):c.582+10G>A
NM_001354604.2(MITF):c.582+11TCTCC[2]
NM_001354604.2(MITF):c.582+11TCTCC[4]
NM_001354604.2(MITF):c.582+8A>G
NM_001354604.2(MITF):c.583-14T>A
NM_001354604.2(MITF):c.583-14_583-3del
NM_001354604.2(MITF):c.583-16G>C
NM_001354604.2(MITF):c.583-16G>T
NM_001354604.2(MITF):c.583-20T>A
NM_001354604.2(MITF):c.583-3C>T
NM_001354604.2(MITF):c.583-4G>A
NM_001354604.2(MITF):c.583-9T>C rs1576007776
NM_001354604.2(MITF):c.589T>G (p.Tyr197Asp)
NM_001354604.2(MITF):c.593A>T (p.Lys198Met)
NM_001354604.2(MITF):c.598G>A (p.Glu200Lys)
NM_001354604.2(MITF):c.607A>G (p.Asn203Asp)
NM_001354604.2(MITF):c.610A>G (p.Arg204Gly)
NM_001354604.2(MITF):c.613G>A (p.Ala205Thr)
NM_001354604.2(MITF):c.621C>T (p.Ser207=) rs370323877
NM_001354604.2(MITF):c.624G>A (p.Glu208=)
NM_001354604.2(MITF):c.627C>T (p.Cys209=)
NM_001354604.2(MITF):c.632G>T (p.Gly211Val)
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.643_644dup (p.Ser216fs)
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.650G>A (p.Arg217Gln)
NM_001354604.2(MITF):c.651A>C (p.Arg217=)
NM_001354604.2(MITF):c.653C>T (p.Ala218Val)
NM_001354604.2(MITF):c.656C>G (p.Ser219Cys)
NM_001354604.2(MITF):c.657C>T (p.Ser219=)
NM_001354604.2(MITF):c.658T>C (p.Cys220Arg)
NM_001354604.2(MITF):c.660_666+6del
NM_001354604.2(MITF):c.666+12C>T
NM_001354604.2(MITF):c.666+1G>A rs1246772999
NM_001354604.2(MITF):c.667-6C>T
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.681C>A (p.Ile227=)
NM_001354604.2(MITF):c.681C>T (p.Ile227=)
NM_001354604.2(MITF):c.682G>A (p.Asp228Asn)
NM_001354604.2(MITF):c.684T>C (p.Asp228=)
NM_001354604.2(MITF):c.690C>T (p.Ile230=)
NM_001354604.2(MITF):c.697C>T (p.Leu233=)
NM_001354604.2(MITF):c.708T>C (p.Ser236=)
NM_001354604.2(MITF):c.709dup (p.Tyr237fs) rs2065962813
NM_001354604.2(MITF):c.721A>G (p.Ile241Val)
NM_001354604.2(MITF):c.727G>A (p.Gly243Ser)
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.738T>C (p.Asp246=)
NM_001354604.2(MITF):c.738T>G (p.Asp246Glu)
NM_001354604.2(MITF):c.739C>T (p.Pro247Ser)
NM_001354604.2(MITF):c.762+13T>C
NM_001354604.2(MITF):c.762+13T>G
NM_001354604.2(MITF):c.762+19dup
NM_001354604.2(MITF):c.762+1G>A
NM_001354604.2(MITF):c.762+4T>C
NM_001354604.2(MITF):c.762G>A (p.Thr254=)
NM_001354604.2(MITF):c.763-16G>A
NM_001354604.2(MITF):c.763-16G>C
NM_001354604.2(MITF):c.763-19A>C
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.763-4C>G
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
NM_001354604.2(MITF):c.764T>C (p.Leu255Ser)
NM_001354604.2(MITF):c.766C>A (p.Pro256Thr)
NM_001354604.2(MITF):c.769G>A (p.Val257Ile)
NM_001354604.2(MITF):c.770T>A (p.Val257Asp) rs2107511139
NM_001354604.2(MITF):c.773C>T (p.Ser258Leu)
NM_001354604.2(MITF):c.774G>A (p.Ser258=)
NM_001354604.2(MITF):c.776G>A (p.Gly259Glu)
NM_001354604.2(MITF):c.788A>C (p.Asp263Ala)
NM_001354604.2(MITF):c.791T>C (p.Leu264Pro)
NM_001354604.2(MITF):c.796G>A (p.Gly266Arg)
NM_001354604.2(MITF):c.803A>G (p.Gln268Arg)
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001354604.2(MITF):c.811C>A (p.Pro271Thr)
NM_001354604.2(MITF):c.815C>T (p.Pro272Leu)
NM_001354604.2(MITF):c.815del (p.Pro272fs)
NM_001354604.2(MITF):c.817C>G (p.Pro273Ala)
NM_001354604.2(MITF):c.828C>A (p.Thr276=)
NM_001354604.2(MITF):c.837C>A (p.Asn279Lys)
NM_001354604.2(MITF):c.859A>G (p.Asn287Asp)
NM_001354604.2(MITF):c.861C>G (p.Asn287Lys) rs2066177332
NM_001354604.2(MITF):c.862A>G (p.Ile288Val)
NM_001354604.2(MITF):c.879A>G (p.Thr293=)
NM_001354604.2(MITF):c.880+19T>C
NM_001354604.2(MITF):c.880+20G>A
NM_001354604.2(MITF):c.880+5A>G
NM_001354604.2(MITF):c.880+6C>G
NM_001354604.2(MITF):c.880+7A>G
NM_001354604.2(MITF):c.880+8C>T
NM_001354604.2(MITF):c.881-15C>T
NM_001354604.2(MITF):c.881-18C>T
NM_001354604.2(MITF):c.881-8G>A
NM_001354604.2(MITF):c.881-9C>T rs766938558
NM_001354604.2(MITF):c.890T>C (p.Phe297Ser)
NM_001354604.2(MITF):c.899_900del (p.Glu300fs) rs2107519404
NM_001354604.2(MITF):c.900G>A (p.Glu300=)
NM_001354604.2(MITF):c.918G>A (p.Leu306=)
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) rs1553704086
NM_001354604.2(MITF):c.927G>A (p.Glu309=)
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001354604.2(MITF):c.929G>A (p.Arg310Lys)
NM_001354604.2(MITF):c.937A>C (p.Lys313Gln)
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.948C>G (p.His316Gln)
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.953_955+3del
NM_001354604.2(MITF):c.955+11T>C
NM_001354604.2(MITF):c.955+18A>G
NM_001354604.2(MITF):c.955+1G>C rs2107519634
NM_001354604.2(MITF):c.955+1G>T rs2107519634
NM_001354604.2(MITF):c.955+3A>T
NM_001354604.2(MITF):c.955+7T>G
NM_001354604.2(MITF):c.955+9G>C
NM_001354604.2(MITF):c.956-17G>T
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.956-2A>G rs2066399731
NM_001354604.2(MITF):c.956-4G>A
NM_001354604.2(MITF):c.956-6T>G
NM_001354604.2(MITF):c.957T>C (p.Ile319=)
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.964A>G (p.Arg322Gly)
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.965G>A (p.Arg322Lys)
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs) rs2066400330
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.986A>G (p.Asp329Gly)
NM_001354604.2(MITF):c.987C>A (p.Asp329Glu) rs1291439207
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_001354604.2(MITF):c.999A>G (p.Glu333=)
Single allele

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