ClinVar Miner

List of variants in gene MTHFR studied for Neural tube defects, folate-sensitive

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Total variants: 32
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HGVS dbSNP
NM_001330358.1(MTHFR):c.1876-18dup rs758514539
NM_005957.4(MTHFR):c.*109C>T rs886045192
NM_005957.4(MTHFR):c.*121C>G rs531577946
NM_005957.4(MTHFR):c.*174del rs776554158
NM_005957.4(MTHFR):c.*21C>T rs376616918
NM_005957.4(MTHFR):c.*22G>A rs374747214
NM_005957.4(MTHFR):c.*367_*369dup rs886045191
NM_005957.4(MTHFR):c.*372A>C rs4846049
NM_005957.4(MTHFR):c.*372_*373insTACC rs886045190
NM_005957.4(MTHFR):c.-15G>A rs886045193
NM_005957.4(MTHFR):c.-69_-63del rs886045194
NM_005957.4(MTHFR):c.1004G>A (p.Arg335His) rs543016186
NM_005957.4(MTHFR):c.1011G>A (p.Gly337=) rs755483936
NM_005957.4(MTHFR):c.1056C>T (p.Ser352=) rs2066462
NM_005957.4(MTHFR):c.1134C>T (p.Thr378=) rs767306503
NM_005957.4(MTHFR):c.117C>T (p.Pro39=) rs2066470
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.4(MTHFR):c.1305C>T (p.Phe435=) rs4846051
NM_005957.4(MTHFR):c.1378C>T (p.Leu460=) rs200180238
NM_005957.4(MTHFR):c.1409A>T (p.Glu470Val) rs142617551
NM_005957.4(MTHFR):c.1649A>G (p.Asn550Ser) rs781388555
NM_005957.4(MTHFR):c.1761C>T (p.Ala587=) rs115049252
NM_005957.4(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.4(MTHFR):c.1861C>G (p.Leu621Val) rs770407631
NM_005957.4(MTHFR):c.1949C>T (p.Ala650Val) rs145544233
NM_005957.4(MTHFR):c.371C>G (p.Thr124Ser) rs768248826
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_005957.4(MTHFR):c.673A>G (p.Ile225Val) rs200100285
NM_005957.4(MTHFR):c.781-12T>C rs376833963
NM_005957.4(MTHFR):c.813G>A (p.Leu271=) rs781214043
NM_005957.4(MTHFR):c.867C>A (p.Asp289Glu) rs139786244
NM_005957.4(MTHFR):c.870C>T (p.Asn290=) rs141769179

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