ClinVar Miner

List of variants reported for Homocystinuria due to methylene tetrahydrofolate reductase deficiency by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00005
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter) rs2100499494
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser) rs147257424

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