ClinVar Miner

List of variants in gene ASPH reported as likely pathogenic by Genomics England Pilot Project, Genomics England

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_004318.4(ASPH):c.2127-2del	rs1200332180	0.00001
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)	rs781508063

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