ClinVar Miner

List of variants reported as risk factor for spina bifida by Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002211.4(ITGB1):c.2303dup (p.Glu769fs)	rs1565818580
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)	rs786204030
NM_182643.3(DLC1):c.1432C>T (p.Pro478Ser)	rs1303000329
NM_182643.3(DLC1):c.2377C>T (p.Gln793Ter)	rs1563593163

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