ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) rs2043757489
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)

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