ClinVar Miner

List of variants studied for central nervous system malformation by Hongyan Wang Laboratory, Fudan University

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001387011.1(AMBRA1):c.1090C>T (p.Leu364Phe) rs768184871 0.00003
NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val) rs761423550 0.00002
NM_001387011.1(AMBRA1):c.239C>T (p.Thr80Met) rs1328894371 0.00001
NM_001387011.1(AMBRA1):c.2498C>T (p.Ser833Phe) rs1950539302
NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe) rs776724460

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