ClinVar Miner

List of variants reported as benign for Dystonia 28, childhood-onset

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.7091A>G (p.Asp2364Gly) rs231591 0.57407
NM_014727.3(KMT2B):c.7743-9G>T rs2242522 0.41828
NM_014727.3(KMT2B):c.5076+25G>A rs2242520 0.26468
NM_014727.3(KMT2B):c.4257C>T (p.Gly1419=) rs11670414 0.14594
NM_014727.3(KMT2B):c.2572-9C>T rs11084828 0.14579
NM_014727.3(KMT2B):c.1126_1128del (p.Lys376del) rs199534880 0.02723
NM_014727.2(KMT2B):c.3059dup rs11373774

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