List of variants in gene VPS13B reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)	rs933746831	0.00001
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100286427-100287483)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 8q22.2(chr8:100673582-100673719)x1
NM_152564.5(VPS13B):c.1002T>G (p.Tyr334Ter)	rs1057519182
NM_152564.5(VPS13B):c.7446_7453dup (p.Phe2485fs)	rs2130678319

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