List of variants in gene MTHFR reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	rs1801131	0.25830
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)	rs2274976	0.04451
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)	rs35737219	0.01399
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=)	rs35653697	0.00937
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.417G>A (p.Thr139=)	rs2066466	0.00106
NM_005957.5(MTHFR):c.513C>A (p.Gly171=)	rs150963282	0.00019
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)	rs121434296	0.00004
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg)	rs1553186124	0.00001
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp)	rs1161759917

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