ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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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.*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.1443G>A (p.Leu481=) rs150213411 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
NM_001354604.2(MITF):c.666+12C>T
NM_001354604.2(MITF):c.762+19dup

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