List of variants in gene ATP6AP2 reported as uncertain significance for congenital disorder of glycosylation, type IIr

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	rs142013283	0.00011
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)	rs147857235	0.00002
NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg)	rs2146547270
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)	rs1555978069

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