ClinVar Miner

List of variants in gene MTR reported as uncertain significance for spina bifida

Included ClinVar conditions (7):

Global developmental delay; Inguinal hernia; Spina bifida occulta; Abnormal facial shape; Delayed speech and language development
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect
Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive
Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive
Neural tube defect
Neural tube defects, folate-sensitive
Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)	rs61736440	0.00081
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)	rs200479834	0.00004
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)	rs797044443

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