ClinVar Miner

List of variants in gene MTHFR studied for not specified

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005957.5(MTHFR):c.1166+31C>T rs1994798 0.55967
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.1167-76G>T rs12121543 0.20910
NM_005957.5(MTHFR):c.1305= (p.Phe435=) rs4846051 0.09835
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_005957.5(MTHFR):c.117C>T (p.Pro39=) rs2066470 0.09092
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_005957.5(MTHFR):c.276C>T (p.Asp92=) rs45546035 0.00215
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.417G>A (p.Thr139=) rs2066466 0.00106
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_005957.5(MTHFR):c.1167-5G>T rs1553185653
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp) rs1161759917
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274

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