ClinVar Miner

List of variants in gene VPS13B reported as pathogenic by SNPedia

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Total variants: 21
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HGVS dbSNP
NM_015243.2(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354
NM_015243.2(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_017890.4(VPS13B):c.10454_10455AG[1] (p.Leu3487fs) rs180177371
NM_017890.4(VPS13B):c.11245G>T (p.Glu3749Ter) rs180177372
NM_017890.4(VPS13B):c.11562_11563AT[1] (p.Tyr3855fs) rs180177373
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.4878_4880dup (p.Tyr1627Ter) rs180177359
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) rs180177360
NM_017890.4(VPS13B):c.4955C>G (p.Ser1652Ter) rs180177361
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5424_5425AG[3] (p.Gln1810fs) rs180177363
NM_017890.4(VPS13B):c.5461dup (p.Arg1821fs) rs180177364
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.7153G>T (p.Glu2385Ter) rs180177368
NM_017890.4(VPS13B):c.7322_7322+1delinsATGGAGC rs180177367
NM_017890.4(VPS13B):c.8292C>A (p.Cys2764Ter) rs180177369
NM_017890.4(VPS13B):c.8318C>T (p.Ser2773Leu) rs180177370

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