ClinVar Miner

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

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_015243.2(VPS13B):c.436C>T (p.Arg146Ter) rs144539572
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.11906_11915del (p.Pro3969fs) rs386834069
NM_017890.4(VPS13B):c.11906_11916delinsG (p.Pro3969fs) rs786204456
NM_017890.4(VPS13B):c.2934+14A>T rs187151724
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.6530-4dupT rs398124337
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.9406-1G>T rs386834119

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