ClinVar Miner

List of variants studied for spina bifida by Mendelics

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
		ClinVar version:

Total variants: 5

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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_138959.3(VANGL1):c.248C>T (p.Ser83Leu)	rs146695372	0.00010
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)	rs148341022	0.00003
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	rs776969786

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