ClinVar Miner

List of variants in gene MTHFR reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg) rs45571736 0.00300
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln) rs139645527 0.00242
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.732C>T (p.Thr244=) rs45486194 0.00082
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=) rs149533586 0.00029
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) rs150963282 0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_005957.5(MTHFR):c.762C>T (p.Pro254=) rs200789362 0.00016
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) rs45459991 0.00011
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.1134C>T (p.Thr378=) rs767306503 0.00004
NM_005957.5(MTHFR):c.18A>G (p.Arg6=) rs748686763 0.00003
NM_005957.5(MTHFR):c.157T>C (p.Leu53=) rs1205350004 0.00001
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=) rs764655005 0.00001
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) rs941382680 0.00001
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys) rs756615138
NM_005957.5(MTHFR):c.615G>A (p.Gly205=) rs779138021

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