ClinVar Miner

List of variants studied for fetal akinesia deformation sequence by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (14):

Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2
Fetal akinesia deformation sequence
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 4C
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1; Lissencephaly; Microcephaly; Abnormal cerebellum morphology; Paucity of anterior horn motor neurons; Severe intrauterine growth retardation; Hypoplasia of the pons
Fetal akinesia deformation sequence 1; Neonatal death; Cerebral ischemia
Fetal akinesia deformation sequence 2
Fetal akinesia deformation sequence 3
Fetal akinesia deformation sequence 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	rs560525099	0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)	rs1452482859	0.00001

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