ClinVar Miner

List of variants reported as likely pathogenic for Insomnia; Seizure; Ectopic tissue; Cerebral visual impairment; Hypoplasia of the corpus callosum; Microcephaly; Strabismus; Abnormal nonverbal communicative behavior; Short foot; Profound global developmental delay; Small hand by Center for Personalized Medicine, Children's Hospital Los Angeles

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	rs185476065	0.00001
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	rs1172486173

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