ClinVar Miner

List of variants reported as pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia by Revvity Omics, Revvity

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)	rs886041126	0.00001
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)	rs1571563769

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