ClinVar Miner

List of variants reported as pathogenic for fetal akinesia deformation sequence by Istanbul Faculty of Medicine, Istanbul University

Included ClinVar conditions (14):

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_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	0.00001

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