ClinVar Miner

List of variants in gene MTHFR reported as benign

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Gene type:
ClinVar version:
Total variants: 57
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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.1752+146T>C rs7518348 0.90139
NM_005957.5(MTHFR):c.476-304A>G rs7533315 0.74629
NM_005957.5(MTHFR):c.586+149A>G rs11121832 0.74621
NM_005957.5(MTHFR):c.*372A>C rs4846049 0.62993
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.1753-48C>G rs3818762 0.22829
NM_005957.5(MTHFR):c.1632+35G>A rs1476413 0.22803
NM_005957.5(MTHFR):c.1167-76G>T rs12121543 0.20910
NM_005957.5(MTHFR):c.236+160T>C rs17367504 0.13468
NM_005957.5(MTHFR):c.587-1332C>T rs17421511 0.12385
NM_005957.5(MTHFR):c.1632+225G>A rs13306556 0.10272
NM_005957.5(MTHFR):c.1305= (p.Phe435=) rs4846051 0.09835
NM_005957.5(MTHFR):c.586+152T>C rs13306553 0.09780
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.1531-80G>A rs17375901 0.04653
NM_005957.5(MTHFR):c.780+179C>T rs45439601 0.04558
NM_005957.5(MTHFR):c.1752+45G>A rs45529133 0.04266
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NC_000001.11:g.11806126C>T rs13306560 0.03691
NM_005957.5(MTHFR):c.1752+79G>A rs55686944 0.03554
NM_005957.5(MTHFR):c.1031+117G>A rs2066465 0.03133
NM_005957.5(MTHFR):c.1632+94G>C rs45578836 0.03124
NM_005957.5(MTHFR):c.-13-91C>T rs17037404 0.02827
NM_005957.5(MTHFR):c.476-76G>A rs2066469 0.01897
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.1264G>A (p.Gly422Arg) rs45571736 0.00300
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
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.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_005957.5(MTHFR):c.1347+20G>A rs201780607 0.00131
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005957.5(MTHFR):c.417G>A (p.Thr139=) rs2066466 0.00106
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_005957.5(MTHFR):c.1941C>A (p.Thr647=) rs139586522 0.00076
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) rs45459991 0.00011
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) rs190046545 0.00005
NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys) rs200947520 0.00002
NM_005957.5(MTHFR):c.-13-380C>A
NM_005957.5(MTHFR):c.1632+14del
NM_005957.5(MTHFR):c.1633-18del
NM_005957.5(MTHFR):c.1633-18dup rs759960805
NM_005957.5(MTHFR):c.1633-5dup
NM_005957.5(MTHFR):c.1752+16del
NM_005957.5(MTHFR):c.1753-14dup rs758514539
NM_005957.5(MTHFR):c.236+170dup rs55645287
NM_005957.5(MTHFR):c.476-79G>A rs2066471

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