ClinVar Miner

List of variants in gene VPS13B reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 7
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HGVS dbSNP
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_017890.4(VPS13B):c.11453C>G (p.Ser3818Ter) rs794727771
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201
NM_017890.4(VPS13B):c.5080dup (p.Ser1694fs) rs886042930
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) rs727504219
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106

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