ClinVar Miner

List of variants reported as pathogenic for Homocystinuria due to methylene tetrahydrofolate reductase deficiency by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	rs977038830	0.00001
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)	rs139645527

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