ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.355-1062G>C rs1236436555 0.00001
NM_000248.4(MITF):c.30T>G (p.Tyr10Ter)
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+1G>C
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu) rs2107536936
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer) rs2107552061
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) rs2107478777
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.899_900del (p.Glu300fs) rs2107519404
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.955+1G>T rs2107519634

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