ClinVar Miner

List of variants reported as uncertain significance for Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
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.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.632G>A (p.Gly211Asp) rs149249176 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.1179+4C>T rs749869303 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 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.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.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.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.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.407G>A (p.Arg136Gln) rs750608171 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.989G>A (p.Arg330His) rs763119975 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
NC_000003.11:g.(?_69985874)_(70014399_?)dup
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+2T>C
NM_000248.4(MITF):c.33_33+6del
NM_000248.4(MITF):c.3G>A (p.Met1Ile)
NM_001354604.2(MITF):c.1001T>C (p.Leu334Pro)
NM_001354604.2(MITF):c.1003G>A (p.Gly335Ser)
NM_001354604.2(MITF):c.1031+5G>A
NM_001354604.2(MITF):c.1036A>G (p.Met346Val)
NM_001354604.2(MITF):c.1040G>A (p.Arg347His) rs1195515853
NM_001354604.2(MITF):c.1045A>T (p.Asn349Tyr)
NM_001354604.2(MITF):c.1055C>T (p.Thr352Ile)
NM_001354604.2(MITF):c.1099G>C (p.Glu367Gln)
NM_001354604.2(MITF):c.1108C>T (p.Arg370Cys)
NM_001354604.2(MITF):c.1111G>A (p.Ala371Thr) rs780721280
NM_001354604.2(MITF):c.1130G>A (p.Arg377Gln)
NM_001354604.2(MITF):c.1134G>C (p.Gln378His)
NM_001354604.2(MITF):c.1137G>T (p.Lys379Asn)
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+3A>G
NM_001354604.2(MITF):c.1179+5G>A rs554738793
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.1205A>C (p.His402Pro)
NM_001354604.2(MITF):c.1205A>T (p.His402Leu)
NM_001354604.2(MITF):c.1210C>T (p.Leu404Phe)
NM_001354604.2(MITF):c.1228A>G (p.Thr410Ala)
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.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.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.1330T>C (p.Cys444Arg)
NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe)
NM_001354604.2(MITF):c.1345G>A (p.Asp449Asn) rs868519483
NM_001354604.2(MITF):c.1351A>G (p.Thr451Ala)
NM_001354604.2(MITF):c.1352C>T (p.Thr451Met)
NM_001354604.2(MITF):c.1370T>C (p.Phe457Ser)
NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp)
NM_001354604.2(MITF):c.1379A>T (p.Asn460Ile)
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.1409C>A (p.Ala470Asp)
NM_001354604.2(MITF):c.1420C>T (p.Pro474Ser)
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.1463A>G (p.Asp488Gly)
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.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.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.1537C>G (p.Arg513Gly)
NM_001354604.2(MITF):c.1541G>A (p.Arg514Lys)
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.1581G>A (p.Ter527=)
NM_001354604.2(MITF):c.364C>A (p.His122Asn)
NM_001354604.2(MITF):c.370G>A (p.Glu124Lys)
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.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.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.520G>A (p.Gly174Arg)
NM_001354604.2(MITF):c.540C>A (p.Ser180Arg)
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.583-14T>A
NM_001354604.2(MITF):c.583-14_583-3del
NM_001354604.2(MITF):c.583-3C>T
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.632G>T (p.Gly211Val)
NM_001354604.2(MITF):c.639C>G (p.Asn213Lys) rs137944487
NM_001354604.2(MITF):c.650G>A (p.Arg217Gln)
NM_001354604.2(MITF):c.653C>T (p.Ala218Val)
NM_001354604.2(MITF):c.656C>G (p.Ser219Cys)
NM_001354604.2(MITF):c.658T>C (p.Cys220Arg)
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.721A>G (p.Ile241Val)
NM_001354604.2(MITF):c.727G>A (p.Gly243Ser)
NM_001354604.2(MITF):c.738T>G (p.Asp246Glu)
NM_001354604.2(MITF):c.739C>T (p.Pro247Ser)
NM_001354604.2(MITF):c.762+4T>C
NM_001354604.2(MITF):c.762G>A (p.Thr254=)
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.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.811C>A (p.Pro271Thr)
NM_001354604.2(MITF):c.815C>T (p.Pro272Leu)
NM_001354604.2(MITF):c.817C>G (p.Pro273Ala)
NM_001354604.2(MITF):c.837C>A (p.Asn279Lys)
NM_001354604.2(MITF):c.859A>G (p.Asn287Asp)
NM_001354604.2(MITF):c.862A>G (p.Ile288Val)
NM_001354604.2(MITF):c.879A>G (p.Thr293=)
NM_001354604.2(MITF):c.880+5A>G
NM_001354604.2(MITF):c.880+6C>G
NM_001354604.2(MITF):c.890T>C (p.Phe297Ser)
NM_001354604.2(MITF):c.929G>A (p.Arg310Lys)
NM_001354604.2(MITF):c.937A>C (p.Lys313Gln)
NM_001354604.2(MITF):c.948C>G (p.His316Gln)
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350
NM_001354604.2(MITF):c.955+3A>T
NM_001354604.2(MITF):c.958G>C (p.Glu320Gln) rs1057522775
NM_001354604.2(MITF):c.964A>G (p.Arg322Gly)
NM_001354604.2(MITF):c.965G>A (p.Arg322Lys)
NM_001354604.2(MITF):c.986A>G (p.Asp329Gly)
NM_001354604.2(MITF):c.987C>A (p.Asp329Glu) rs1291439207

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