ClinVar Miner

List of variants in gene MITF reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*2580C>T rs139487027 0.00303
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001354604.2(MITF):c.*1570C>T rs528276006 0.00055
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001354604.2(MITF):c.1494A>C (p.Pro498=) rs777982903 0.00004
NM_001354604.2(MITF):c.990C>T (p.Arg330=) rs147883651 0.00004
NM_001354604.2(MITF):c.*2159dup rs550555819
NM_001354604.2(MITF):c.104+24163C>T
NM_001354604.2(MITF):c.1061T>C (p.Leu354Ser) rs2107537021
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001354604.2(MITF):c.1180-2A>G rs1064797294
NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe)
NM_001354604.2(MITF):c.1331_1343dup (p.Asp449fs) rs2066649828
NM_001354604.2(MITF):c.1477G>A (p.Val493Ile) rs756044021
NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del) rs1576071470
NM_001354604.2(MITF):c.397C>T (p.Gln133Ter) rs2065878986
NM_001354604.2(MITF):c.915dup (p.Leu306fs) rs2066264379
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.989G>T (p.Arg330Leu) rs763119975

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