ClinVar Miner

List of variants in gene VPS13D studied for fetal akinesia deformation sequence

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)	rs79282181	0.00112
NM_015378.4(VPS13D):c.518G>A (p.Gly173Asp)	rs185443968	0.00031

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