ClinVar Miner

List of variants in gene VPS13B reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Gene type:
ClinVar version:
Total variants: 10
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NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs) rs1554581504
NM_017890.4(VPS13B):c.10847_10849del (p.Phe3616del) rs1554581821
NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152
NM_017890.4(VPS13B):c.292-7A>G rs1554612610
NM_017890.4(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_017890.4(VPS13B):c.3870+1G>T rs764225649
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.7323-1G>A rs763079458

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