ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00014
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys) rs45550133 0.00011
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) rs775190420 0.00005
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 0.00004
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile) rs781158269 0.00002
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 0.00002
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) rs766683363 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala) rs779726227 0.00001
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu) rs747712448 0.00001
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) rs202095816 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) rs367585605
NM_005957.5(MTHFR):c.1753-22_1753-3del rs752911686
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746

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