ClinVar Miner

List of variants reported as pathogenic for central nervous system malformation by Beijing Municipal Key Laboratory, Capital Institute of Pediatrics

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