ClinVar Miner

List of variants reported as likely benign for Dyskinesia with orofacial involvement, autosomal dominant; Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_183357.3(ADCY5):c.3064-18G>A rs56301263 0.01164
NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=) rs113566464 0.00342
NM_183357.3(ADCY5):c.2481C>A (p.Ile827=) rs75494273 0.00296
NM_183357.3(ADCY5):c.130C>T (p.His44Tyr) rs189868197 0.00096
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu) rs77439349 0.00016

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