ClinVar Miner

List of variants in gene SLC9A6 reported as likely pathogenic for Autistic disorder of childhood onset; Pectus excavatum; Esotropia; Global developmental delay; Seizures; Short stature; Failure to thrive; Deeply set eye; Clinodactyly of the 5th finger; Impaired use of nonverbal behaviors; Generalized hypotonia; Chorea; Postnatal microcephaly; Focal white matter lesions

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001042537.1(SLC9A6):c.1728-19_1728-3del rs1569525894

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