ClinVar Miner

List of variants in gene MTHFR studied for Homocystinuria due to MTHFR deficiency

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Total variants: 9
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MTHFR, 1081C-T
MTHFR, 1084C-T
MTHFR, 1711C-T
NM_005957.4(MTHFR):c.1015T>G (p.Trp339Gly) rs267606886
NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296
NM_005957.4(MTHFR):c.470G>A (p.Arg157Gln) rs121434295
NM_005957.4(MTHFR):c.547C>T (p.Arg183Ter) rs121434294
NM_005957.4(MTHFR):c.968T>C (p.Leu323Pro) rs121434297
NM_005957.4(MTHFR):c.971A>G (p.Asn324Ser) rs267606887

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