ClinVar Miner

List of variants in gene VPS13B reported as pathogenic for Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint laxity; Attention deficit hyperactivity disorder; Muscular hypotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070

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