ClinVar Miner

List of variants in gene MITF reported as likely benign for Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8

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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
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.1412A>T (p.Tyr471Phe) rs145325518 0.00022
NM_001354604.2(MITF):c.667-3C>T rs376704147 0.00021
NM_001354604.2(MITF):c.881-6G>A rs752788538 0.00016
NM_001354604.2(MITF):c.666+15G>C rs201698367 0.00012
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.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.1384G>A (p.Gly462Arg) rs143537610 0.00005
NM_001354604.2(MITF):c.1180-6T>C rs202242500 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.990C>T (p.Arg330=) rs147883651 0.00004
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.1146G>A (p.Glu382=) rs779560468 0.00003
NM_001354604.2(MITF):c.513G>A (p.Pro171=) rs774998383 0.00003
NM_001354604.2(MITF):c.1180-11T>C rs538450872 0.00002
NM_001354604.2(MITF):c.558G>A (p.Thr186=) rs1460798970 0.00002
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.1476C>T (p.Pro492=) rs745749254 0.00001
NM_001354604.2(MITF):c.355-8A>G rs876657867 0.00001
NM_001354604.2(MITF):c.471C>T (p.Ser157=) rs953396864 0.00001
NM_001354604.2(MITF):c.930G>A (p.Arg310=) rs755901867 0.00001
NM_001354604.2(MITF):c.1002A>G (p.Leu334=)
NM_001354604.2(MITF):c.1011G>A (p.Leu337=)
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.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.1050G>A (p.Lys350=) rs201348324
NM_001354604.2(MITF):c.1068A>G (p.Ala356=)
NM_001354604.2(MITF):c.1074G>C (p.Val358=)
NM_001354604.2(MITF):c.1080T>C (p.Tyr360=)
NM_001354604.2(MITF):c.1104G>A (p.Gln368=)
NM_001354604.2(MITF):c.1131A>G (p.Arg377=)
NM_001354604.2(MITF):c.1137G>A (p.Lys379=)
NM_001354604.2(MITF):c.1179+11T>C
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.1296C>T (p.Ser432=)
NM_001354604.2(MITF):c.1317T>C (p.His439=)
NM_001354604.2(MITF):c.1344C>T (p.Leu448=)
NM_001354604.2(MITF):c.1350C>T (p.Leu450=) rs555549121
NM_001354604.2(MITF):c.1353G>A (p.Thr451=)
NM_001354604.2(MITF):c.1353G>T (p.Thr451=)
NM_001354604.2(MITF):c.1383C>T (p.Leu461=)
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.1416T>C (p.Ser472=)
NM_001354604.2(MITF):c.1425A>G (p.Thr475=)
NM_001354604.2(MITF):c.1461C>T (p.Asp487=)
NM_001354604.2(MITF):c.1464C>T (p.Asp488=)
NM_001354604.2(MITF):c.1479C>T (p.Val493=)
NM_001354604.2(MITF):c.1506A>G (p.Ser502=)
NM_001354604.2(MITF):c.1537C>A (p.Arg513=)
NM_001354604.2(MITF):c.1542G>A (p.Arg514=)
NM_001354604.2(MITF):c.1578T>C (p.Cys526=)
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.369C>T (p.Leu123=)
NM_001354604.2(MITF):c.495C>G (p.Gly165=)
NM_001354604.2(MITF):c.495C>T (p.Gly165=) rs373840246
NM_001354604.2(MITF):c.519G>A (p.Pro173=)
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.543C>T (p.Pro181=)
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.583-16G>C
NM_001354604.2(MITF):c.583-16G>T
NM_001354604.2(MITF):c.583-20T>A
NM_001354604.2(MITF):c.583-4G>A
NM_001354604.2(MITF):c.583-9T>C rs1576007776
NM_001354604.2(MITF):c.624G>A (p.Glu208=)
NM_001354604.2(MITF):c.627C>T (p.Cys209=)
NM_001354604.2(MITF):c.639C>T (p.Asn213=) rs137944487
NM_001354604.2(MITF):c.651A>C (p.Arg217=)
NM_001354604.2(MITF):c.657C>T (p.Ser219=)
NM_001354604.2(MITF):c.667-6C>T
NM_001354604.2(MITF):c.681C>A (p.Ile227=)
NM_001354604.2(MITF):c.681C>T (p.Ile227=)
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.738T>C (p.Asp246=)
NM_001354604.2(MITF):c.762+13T>C
NM_001354604.2(MITF):c.762+13T>G
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.763-4C>G
NM_001354604.2(MITF):c.774G>A (p.Ser258=)
NM_001354604.2(MITF):c.828C>A (p.Thr276=)
NM_001354604.2(MITF):c.880+19T>C
NM_001354604.2(MITF):c.880+20G>A
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.900G>A (p.Glu300=)
NM_001354604.2(MITF):c.918G>A (p.Leu306=)
NM_001354604.2(MITF):c.927G>A (p.Glu309=)
NM_001354604.2(MITF):c.955+11T>C
NM_001354604.2(MITF):c.955+18A>G
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.956-4G>A
NM_001354604.2(MITF):c.956-6T>G
NM_001354604.2(MITF):c.957T>C (p.Ile319=)
NM_001354604.2(MITF):c.999A>G (p.Glu333=)

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