ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
NM_000248.4(MITF):c.33+1G>A rs1553701477
NM_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) rs149617956
NM_001354604.2(MITF):c.1291dup (p.Cys431fs) rs2107552171
NM_001354604.2(MITF):c.1377del (p.Asn459fs) rs2066652447
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.955+1G>C rs2107519634
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs) rs2066400330
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
Single allele

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