List of variants reported as likely pathogenic for homocystinuria due to methylene tetrahydrofolate reductase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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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.1348-1G>C	rs2522857846
NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr)	rs1057519361
NM_005957.5(MTHFR):c.740del (p.Gly247fs)

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