ClinVar Miner

List of variants in gene MTHFR reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 55
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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.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.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
NM_005957.5(MTHFR):c.476-86G>C rs13306567 0.03697
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.476-305C>T rs35593468 0.02474
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.1632+32C>T rs45497396 0.00928
NM_005957.5(MTHFR):c.237-208C>T rs45577937 0.00672
NM_005957.5(MTHFR):c.1530+49G>T rs112100966 0.00251
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_005957.5(MTHFR):c.907G>A (p.Val303Met) rs143466425 0.00010
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.1167-5G>T rs1553185653
NM_005957.5(MTHFR):c.1365G>A (p.Trp455Ter) rs1553185497
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1530+284C>T rs45444794
NM_005957.5(MTHFR):c.1531-115C>A rs45558433
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter) rs1553185069
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1A>G (p.Met1Val) rs776734688
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter) rs763539350
NM_005957.5(MTHFR):c.236+170dup rs55645287
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)
NM_005957.5(MTHFR):c.476-79G>A rs2066471
NM_005957.5(MTHFR):c.526_529delinsCCAGGGAGGCTTC (p.Val176_Asp177delinsProGlyArgLeuHis) rs2100561692
NM_005957.5(MTHFR):c.713G>A (p.Arg238His)
NM_005957.5(MTHFR):c.82G>A (p.Asp28Asn) rs2100578318

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