ClinVar Miner

List of variants reported as risk factor for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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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
NM_002211.4(ITGB1):c.2303dup (p.Glu769fs) rs1565818580
NM_005909.5(MAP1B):c.2134del (p.Glu712fs) rs1561314246
NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter) rs1561315170
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) rs1580026238
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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