ClinVar Miner

List of variants in gene VPS13B reported as pathogenic for Inborn genetic diseases

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Total variants: 5
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NM_017890.4(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152
NM_017890.4(VPS13B):c.5462_5465dup (p.Arg1824fs) rs1554884733
NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter) rs753770252
NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) rs886041185

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