ClinVar Miner

List of variants in gene ASAH1 reported as likely pathogenic for fetal akinesia deformation sequence

Included ClinVar conditions (14):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	rs200758704	0.00014
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	rs1588980220

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