ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_005957.4(MTHFR):c.*7G>A rs547574100
NM_005957.4(MTHFR):c.1032-6A>G rs2066464
NM_005957.4(MTHFR):c.1034G>A (p.Arg345His) rs753278299
NM_005957.4(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.4(MTHFR):c.111G>A (p.Leu37=) rs1553188013
NM_005957.4(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092
NM_005957.4(MTHFR):c.1392C>T (p.Thr464=) rs79157191
NM_005957.4(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.4(MTHFR):c.1515C>T (p.Gly505=) rs376927238
NM_005957.4(MTHFR):c.151C>T (p.Arg51Trp) rs764131110
NM_005957.4(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298
NM_005957.4(MTHFR):c.1625A>C (p.Asn542Thr)
NM_005957.4(MTHFR):c.1761C>T (p.Ala587=) rs115049252
NM_005957.4(MTHFR):c.348C>T (p.Ala116=) rs144921426
NM_005957.4(MTHFR):c.3G>C (p.Met1Ile) rs373076763
NM_005957.4(MTHFR):c.426G>T (p.Leu142=) rs1553187352
NM_005957.4(MTHFR):c.667G>A (p.Asp223Asn) rs150847674
NM_005957.4(MTHFR):c.708C>T (p.Phe236=) rs34279942
NM_005957.4(MTHFR):c.788A>C (p.His263Pro) rs142612062
NM_005957.4(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823
NM_005957.4(MTHFR):c.853G>A (p.Glu285Lys) rs372258648
NM_005957.4(MTHFR):c.89C>T (p.Ser30Leu) rs886043815

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