ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp) rs145302631 0.00019
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp) rs368735885 0.00018
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys) rs377571071 0.00003
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_005957.5(MTHFR):c.1859A>G (p.Asn620Ser) rs776034726 0.00002
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr) rs765834557 0.00002
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser) rs762663885 0.00001
NM_005957.5(MTHFR):c.1235C>G (p.Ser412Cys) rs779627394 0.00001
NM_005957.5(MTHFR):c.1273C>G (p.Leu425Val) rs369897291 0.00001
NM_005957.5(MTHFR):c.1811C>T (p.Pro604Leu) rs747938592 0.00001
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly) rs370272345 0.00001
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp) rs765930342 0.00001
NM_005957.5(MTHFR):c.340A>G (p.Ser114Gly) rs1199277582 0.00001
NM_005957.5(MTHFR):c.47A>G (p.Glu16Gly) rs780279740 0.00001
NM_005957.5(MTHFR):c.1028C>G (p.Pro343Arg)
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg) rs766410193
NM_005957.5(MTHFR):c.1067A>G (p.Lys356Arg)
NM_005957.5(MTHFR):c.1081G>T (p.Asp361Tyr)
NM_005957.5(MTHFR):c.1277C>T (p.Thr426Ile)
NM_005957.5(MTHFR):c.1288A>G (p.Ser430Gly) rs72552099
NM_005957.5(MTHFR):c.151C>G (p.Arg51Gly) rs764131110
NM_005957.5(MTHFR):c.1604G>C (p.Arg535Pro)
NM_005957.5(MTHFR):c.1823T>A (p.Ile608Asn) rs1644071318
NM_005957.5(MTHFR):c.206C>T (p.Thr69Ile)
NM_005957.5(MTHFR):c.260G>T (p.Gly87Val) rs145302631
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val) rs761545364
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr) rs143428827
NM_005957.5(MTHFR):c.48G>C (p.Glu16Asp)
NM_005957.5(MTHFR):c.566A>G (p.Tyr189Cys) rs555964132
NM_005957.5(MTHFR):c.715T>C (p.Phe239Leu)
NM_005957.5(MTHFR):c.757G>A (p.Val253Ile)
NM_005957.5(MTHFR):c.779A>G (p.Gln260Arg) rs2522894868
NM_005957.5(MTHFR):c.854A>G (p.Glu285Gly)
NM_005957.5(MTHFR):c.881T>C (p.Ile294Thr)
NM_005957.5(MTHFR):c.952C>G (p.Leu318Val)

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