236200.G.3

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Hyperhomocystinemia; Hypermethioninemia

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000071.3:c.1006C>T	14	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Group of 7 infants with elevated homocystein levels. 5/7 infants had elevated levels of methionine