ClinVar Miner

List of variants reported as risk factor for central nervous system malformation by Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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