ClinVar Miner

List of variants in gene MITF studied for Waardenburg syndrome

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Total variants: 10
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HGVS dbSNP
NM_001354604.2(MITF):c.*2159dup rs550555819
NM_001354604.2(MITF):c.*2160del rs565618309
NM_001354604.2(MITF):c.*413_*416del rs886058810
NM_001354604.2(MITF):c.*415_*418AAGA[2] rs886058811
NM_001354604.2(MITF):c.*574_*576dup rs59665466
NM_001354604.2(MITF):c.*575_*576dup rs59665466
NM_001354604.2(MITF):c.*576dup rs59665466
NM_001354604.2(MITF):c.1180-2A>G rs1064797294
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) rs1057518765
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814

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