ClinVar Miner

List of variants reported as uncertain significance for Tietz syndrome

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*556T>C rs573364713 0.00100
NM_001354604.2(MITF):c.*1570C>T rs528276006 0.00055
NM_001354604.2(MITF):c.*1502A>T rs766340943 0.00043
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.*1380A>G rs560413518 0.00015
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.*802A>T rs190223113 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.*1893C>T rs886058815 0.00005
NM_001354604.2(MITF):c.*1666T>G rs995848515 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.1259G>A (p.Arg420Gln) rs201351378 0.00003
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.*2160del rs565618309 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.104+24188C>G rs1441101806 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.355-1219G>A rs995608975 0.00001
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.*2140T>C rs2066715422
NM_001354604.2(MITF):c.*2275G>A rs550114890
NM_001354604.2(MITF):c.*2294A>G rs1576076650
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.*413_*416del rs886058810
NM_001354604.2(MITF):c.*415AAGA[2] rs886058811
NM_001354604.2(MITF):c.*442A>G rs1222694868
NM_001354604.2(MITF):c.*574_*576dup rs59665466
NM_001354604.2(MITF):c.*576dup rs59665466
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.1150G>T (p.Ala384Ser) rs202020443
NM_001354604.2(MITF):c.1320A>T (p.Ala440=) rs886058808
NM_001354604.2(MITF):c.505A>G (p.Met169Val) rs143224466
NM_001354604.2(MITF):c.531A>G (p.Ala177=) rs1193795003
NM_001354604.2(MITF):c.621C>T (p.Ser207=) rs370323877
NM_001354604.2(MITF):c.861C>G (p.Asn287Lys) rs2066177332

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