List of variants reported as benign for Waardenburg syndrome type 2A by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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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.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

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