ClinVar Miner

List of variants reported as uncertain significance for Tietz syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.104+24188C>G rs1441101806 0.00001
NM_001354604.2(MITF):c.1150G>T (p.Ala384Ser) rs202020443

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