ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*1941A>G rs192503700 0.00100
NM_001354604.2(MITF):c.*12T>C rs201375960 0.00012
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) rs368915509 0.00008
NM_001354604.2(MITF):c.1180-11T>C rs538450872 0.00002
NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala) rs199992377 0.00002
NM_001354604.2(MITF):c.1056C>T (p.Thr352=) rs766006413 0.00001
NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg) rs751147980 0.00001
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072

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