ClinVar Miner

List of variants in gene ATP6AP2 reported as uncertain significance for ATP6AP2-related disorder

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)	rs1450455949	0.00001
NM_005765.3(ATP6AP2):c.858+4A>G	rs2518966944

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