ClinVar Miner

List of variants reported as pathogenic for spina bifida by Beijing Municipal Key Laboratory, Capital Institute of Pediatrics

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: 3

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HGVS	dbSNP	gnomAD frequency
NC_000010.10:g.34835589_34975192del139604
NM_001184785.2(PARD3):c.2339A>G (p.Asp780Gly)	rs1114167354
NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln)	rs781461462

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