ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506Hisfs) rs1554581504
NM_017890.4(VPS13B):c.10847_10849delTCT (p.Phe3616del) rs1554581821
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.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) rs386834117
NM_152564.4(VPS13B):c.3870+1G>T rs764225649

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