ClinVar Miner

List of variants reported as likely pathogenic for Homocysteinemia due to MTHFR deficiency

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Total variants: 6
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HGVS dbSNP
NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296
NM_005957.4(MTHFR):c.1130G>A (p.Arg377His)
NM_005957.4(MTHFR):c.1163G>A (p.Arg388His) rs769953411
NM_005957.4(MTHFR):c.1267dup (p.Glu423fs) rs1557761665
NM_005957.4(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_005957.4(MTHFR):c.548G>A (p.Arg183Gln) rs574132670

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