ClinVar Miner

List of variants reported as pathogenic for autism spectrum disorder due to AUTS2 deficiency by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs)	rs1554401434
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)	rs1554480537

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