ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance for Homocysteinemia due to MTHFR deficiency

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Total variants: 12
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NM_005957.4(MTHFR):c.1014G>A (p.Met338Ile)
NM_005957.4(MTHFR):c.1117A>T (p.Ser373Cys)
NM_005957.4(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092
NM_005957.4(MTHFR):c.1263G>C (p.Trp421Cys)
NM_005957.4(MTHFR):c.1320G>T (p.Ser440=)
NM_005957.4(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.4(MTHFR):c.145A>G (p.Met49Val)
NM_005957.4(MTHFR):c.1667C>T (p.Pro556Leu) rs747712448
NM_005957.4(MTHFR):c.1720G>A (p.Val574Ile)
NM_005957.4(MTHFR):c.248T>C (p.Met83Thr) rs1426036757
NM_005957.4(MTHFR):c.330G>C (p.Met110Ile)
NM_005957.4(MTHFR):c.700G>A (p.Asp234Asn) rs45589033

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