ClinVar Miner

List of variants in gene FUZ studied for isolated spina bifida

Included ClinVar conditions (6):

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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_025129.5(FUZ):c.405C>T (p.Ile135=)	rs35499921	0.00594
NM_025129.5(FUZ):c.446C>T (p.Thr149Ile)	rs762455950	0.00005

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