ClinVar Miner

List of variants in gene DYNC1H1 reported as likely benign for Congenital cerebellar hypoplasia; High palate; Delayed puberty; Partial agenesis of the corpus callosum; Microcephaly; Small for gestational age; Abnormal cortical gyration; Hypoglycemic encephalopathy; Periventricular cysts

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu) rs1057518888

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