ClinVar Miner

List of variants in gene ALPK3 reported as pathogenic 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_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)	rs749465164	0.00004
NM_020778.5(ALPK3):c.4154del (p.Pro1385fs)	rs568699617

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