ClinVar Miner

List of variants studied for central nervous system malformation by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_004958.4(MTOR):c.112G>A (p.Ala38Thr) rs138117203
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)

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