ClinVar Miner

List of variants reported for Dystonia 28, childhood-onset by Undiagnosed Diseases Network, NIH

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.118del (p.Ala40fs) rs1969024891
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe) rs1555731819
NM_014727.3(KMT2B):c.7614del (p.Thr2539fs) rs2146481256

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