ClinVar Miner

List of variants studied for inborn disorder of ornithine metabolism by Counsyl

Included ClinVar conditions (14):

ALDH18A1-related de Barsy syndrome
ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
Autosomal recessive complex spastic paraplegia type 9B
Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome
Hereditary spastic paraplegia 9A
Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B
Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3; de Barsy syndrome
Hyperornithinemia
Ornithine aminotransferase deficiency
P5CS deficiency

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000274.4(OAT):c.199+11_199+16dup	rs201396618
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)	rs121965056

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