ClinVar Miner

List of variants reported as likely pathogenic for Insomnia; Seizures; Heterotopia; Cortical visual impairment; Hypoplasia of the corpus callosum; Microcephaly; Strabismus; Impaired use of nonverbal behaviors; Short foot; Profound global developmental delay; Small hand

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173

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