ClinVar Miner

List of variants in gene PGAP1 reported as uncertain significance for Neurodevelopmental 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_024989.4(PGAP1):c.1706C>T (p.Thr569Met)	rs762049431	0.00003
NM_024989.4(PGAP1):c.1351-1G>T	rs2468626295

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