ClinVar Miner

List of variants in gene VPS53 reported by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001128159.3(VPS53):c.1312_1313+2del	rs768997239	0.00003
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter)	rs200594402
NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter)	rs1434668575

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