ClinVar Miner

List of variants studied for central nervous system malformation by MVZ Medizinische Genetik Mainz

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.487C>T (p.Gln163Ter)
NM_001759.4(CCND2):c.196-1G>A
NM_004958.4(MTOR):c.5704G>A (p.Asp1902Asn)
NM_005465.7(AKT3):c.998G>A (p.Gly333Glu)

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