ClinVar Miner

List of variants in gene VPS13B reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 10
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NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11777_11780del (p.Leu3926fs) rs1161589003
NM_017890.4(VPS13B):c.11906_11915del (p.Pro3969fs) rs386834069
NM_017890.4(VPS13B):c.11906_11916delinsG (p.Pro3969fs) rs786204456
NM_017890.4(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354
NM_017890.4(VPS13B):c.436C>T (p.Arg146Ter) rs144539572
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter) rs386834110

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