ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
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.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005957.5(MTHFR):c.788A>C (p.His263Pro) rs142612062 0.00076
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) rs79157191 0.00064
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_005957.5(MTHFR):c.*7G>A rs547574100 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 0.00002
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His) rs753278299 0.00001
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.111G>A (p.Leu37=) rs1553188013
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=) rs376927238
NM_005957.5(MTHFR):c.426G>T (p.Leu142=) rs1553187352
NM_005957.5(MTHFR):c.89C>T (p.Ser30Leu) rs886043815

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