ClinVar Miner

List of variants reported as benign for Waardenburg syndrome type 2A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*2068C>T rs576 0.33688
NM_001354604.2(MITF):c.*2505C>T rs704246 0.29266
NM_001354604.2(MITF):c.*48T>C rs9863910 0.11996
NM_001354604.2(MITF):c.*1248T>C rs2131025 0.07575
NM_001354604.2(MITF):c.*824T>A rs114659118 0.02066
NM_001354604.2(MITF):c.*2458G>A rs77962238 0.01521
NM_001354604.2(MITF):c.*1150T>C rs150314710 0.01496
NM_001354604.2(MITF):c.355-1135G>A rs77588960 0.01433
NM_001354604.2(MITF):c.*2170A>G rs78240629 0.01047
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_001354604.2(MITF):c.*2580C>T rs139487027 0.00303
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001354604.2(MITF):c.*836G>T rs558793046 0.00194
NM_001354604.2(MITF):c.*2924C>T rs151043552 0.00174
NM_001354604.2(MITF):c.*3033A>G rs139770177 0.00150
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_001354604.2(MITF):c.*379T>C rs552044239 0.00071
NM_001354604.2(MITF):c.*228C>T rs190540926 0.00069
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) rs142263283 0.00050
NM_001354604.2(MITF):c.*1491A>G rs80212793 0.00042
NM_001354604.2(MITF):c.*286G>A rs187361634 0.00029
NM_001354604.2(MITF):c.*235T>C rs183031244 0.00028
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001354604.2(MITF):c.*2673T>G rs75204045 0.00017
NM_001354604.2(MITF):c.882G>A (p.Ala294=) rs778126895 0.00011
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
NM_001354604.2(MITF):c.*2868T>C rs529623175 0.00005
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_001354604.2(MITF):c.*447C>A rs546175299 0.00002
NM_001354604.2(MITF):c.*1101G>A rs557878790 0.00001
NM_001354604.2(MITF):c.*1270G>A rs137975240
NM_001354604.2(MITF):c.*2029A>T rs571540517
NM_001354604.2(MITF):c.*24G>A rs375847754
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) rs548265796

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.