ClinVar Miner

List of variants in gene VPS35L reported as pathogenic for Ritscher-Schinzel syndrome

Included ClinVar conditions (7):

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_020314.7(VPS35L):c.2488G>A (p.Ala830Thr)	rs747119819
NM_020314.7(VPS35L):c.830dup (p.Cys277fs)	rs1972596669

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