ClinVar Miner

List of variants in gene MTHFR reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
NM_005957.5(MTHFR):c.276C>T (p.Asp92=) rs45546035 0.00201
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00190
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.417G>A (p.Thr139=) rs2066466 0.00106
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=) rs149533586 0.00027
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp) rs145302631 0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp) rs368735885 0.00018
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00013
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_005957.5(MTHFR):c.1146C>T (p.Asp382=) rs761540678 0.00005
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=) rs200180238 0.00005
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) rs190046545 0.00005
NM_005957.5(MTHFR):c.1722A>T (p.Val574=) rs936532190 0.00004
NM_005957.5(MTHFR):c.1800G>T (p.Glu600Asp) rs904238175 0.00003
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys) rs377571071 0.00003
NM_005957.5(MTHFR):c.756C>T (p.Ile252=) rs1379249594 0.00003
NM_005957.5(MTHFR):c.783C>G (p.Gly261=) rs960207316 0.00003
NM_005957.5(MTHFR):c.1011G>A (p.Gly337=) rs755483936 0.00002
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.813G>A (p.Leu271=) rs781214043 0.00002
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser) rs762663885 0.00001
NM_005957.5(MTHFR):c.1062C>T (p.His354=) rs776606131 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.1334G>A (p.Arg445Gln) rs774694621 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1479C>G (p.Ser493=) rs774377137 0.00001
NM_005957.5(MTHFR):c.1811C>T (p.Pro604Leu) rs747938592 0.00001
NM_005957.5(MTHFR):c.1839C>T (p.His613=) rs199730437 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.321C>T (p.Thr107=) rs769916813 0.00001
NM_005957.5(MTHFR):c.340A>G (p.Ser114Gly) rs1199277582 0.00001
NM_005957.5(MTHFR):c.423T>C (p.His141=) rs1339869041 0.00001
NM_005957.5(MTHFR):c.47A>G (p.Glu16Gly) rs780279740 0.00001
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) rs941382680 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.105G>A (p.Pro35=) rs368987205
NM_005957.5(MTHFR):c.1067A>G (p.Lys356Arg)
NM_005957.5(MTHFR):c.1081G>T (p.Asp361Tyr)
NM_005957.5(MTHFR):c.1083T>C (p.Asp361=) rs1486854528
NM_005957.5(MTHFR):c.1277C>T (p.Thr426Ile)
NM_005957.5(MTHFR):c.1288A>G (p.Ser430Gly) rs72552099
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) rs367585605
NM_005957.5(MTHFR):c.1497C>T (p.Gly499=) rs2522854728
NM_005957.5(MTHFR):c.151C>G (p.Arg51Gly) rs764131110
NM_005957.5(MTHFR):c.1521C>T (p.Val507=) rs1035682753
NM_005957.5(MTHFR):c.1604G>C (p.Arg535Pro)
NM_005957.5(MTHFR):c.1823T>A (p.Ile608Asn) rs1644071318
NM_005957.5(MTHFR):c.1950G>C (p.Ala650=) rs1300052327
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.390C>T (p.Cys130=) rs1185978577
NM_005957.5(MTHFR):c.465G>T (p.Ala155=) rs566125423
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.897C>T (p.Ile299=) rs146025831
NM_005957.5(MTHFR):c.952C>G (p.Leu318Val)

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