ClinVar Miner

List of variants studied for Elevated circulating creatine kinase concentration; Dystonic disorder; Global developmental delay; Abnormal female external genitalia morphology; Oculomotor apraxia; Orofacial dyskinesia; Abnormal globus pallidus morphology; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)	rs140073033	0.00007
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)	rs765668209

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