ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_000248.4(MITF):c.679dup (p.Leu227fs) 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.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001354604.2(MITF):c.355-1066G>A rs1553701477
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
NM_001354604.2(MITF):c.763-2A>C rs1553703612
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.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682

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