ClinVar Miner

List of variants reported as uncertain significance for Waardenburg syndrome type 2A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
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.644A>T (p.His215Leu) rs761038653 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.*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.1031+15G>A rs144757214 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 0.00003
NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys) rs150995386 0.00002
NM_001354604.2(MITF):c.881C>T (p.Ala294Val) rs373945151 0.00002
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.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.989G>A (p.Arg330His) rs763119975 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 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.*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.1044dup (p.Asn349fs) rs2066481098
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
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
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.