ClinVar Miner

List of variants studied for homocystinuria by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (21):

Benign concentric annular macular dystrophy; Cobalamin C disease
Classic homocystinuria
Cobalamin C disease
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect
Homocystinuria without methylmalonic aciduria
Homocystinuria; Decreased methionine synthase activity
Homocystinuria; Methylmalonic aciduria
Hyperhomocysteinemia
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive
Methylcobalamin deficiency type cblG
Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblD; Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 5
Methylmalonic aciduria and homocystinuria type cblF

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	rs121913578	0.00009
NM_000254.3(MTR):c.385G>C (p.Ala129Pro)	rs1190777785	0.00001

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