ClinVar Miner

List of variants in gene MTHFR reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_005957.5(MTHFR):c.-13-304G>A rs564397537 0.00031
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_005957.5(MTHFR):c.1426C>T (p.Arg476Cys) rs757784497 0.00004
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) rs769953411 0.00002
NM_005957.5(MTHFR):c.1462A>G (p.Ile488Val) rs1235405305 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.660G>A (p.Ala220=) rs141060174 0.00001
NC_000001.11:g.11806049C>T rs1337903078
NM_005957.5(MTHFR):c.*118C>G
NM_005957.5(MTHFR):c.*41C>T
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1500G>A (p.Trp500Ter) rs116620395
NM_005957.5(MTHFR):c.1753-26G>A
NM_005957.5(MTHFR):c.465G>A (p.Ala155=) rs566125423

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