ClinVar Miner

List of variants reported as uncertain significance for Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness 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_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199

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