ClinVar Miner

List of variants reported as uncertain significance for Dystonia 28, childhood-onset by SIB Swiss Institute of Bioinformatics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.4955G>A (p.Gly1652Asp) rs1555731832
NM_014727.3(KMT2B):c.4986C>A (p.Phe1662Leu) rs372432644
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_014727.3(KMT2B):c.5284C>T (p.Arg1762Cys) rs1489232377
NM_014727.3(KMT2B):c.5342T>C (p.Leu1781Pro) rs1555732094
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014727.3(KMT2B):c.8021T>C (p.Ile2674Thr) rs1555735051

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