ClinVar Miner

List of variants reported as risk factor 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001184785.2(PARD3):c.2572A>T (p.Thr858Ser)	rs762921297	0.00008
NM_001184785.2(PARD3):c.1046G>A (p.Arg349His)	rs199923448	0.00006
NM_001184785.2(PARD3):c.583-3T>C	rs557643577	0.00006
NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser)	rs757259023	0.00003

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