ClinVar Miner

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

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Total variants: 3

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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.7614del (p.Thr2539fs)	rs2146481256

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