ClinVar Miner

List of variants in gene VPS13B reported as pathogenic for canker sore

Included ClinVar conditions (1):

Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)	rs386834061	0.00002
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)	rs1057518939

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