ClinVar Miner

List of variants in gene VPS13B reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00021
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) rs773387480 0.00001
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.3515C>T (p.Thr1172Ile) rs1306881471
NM_152564.5(VPS13B):c.9331-1delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT rs2130857700
NM_152564.5(VPS13B):c.9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-5_9331-3dup rs370235149

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