ClinVar Miner

List of variants studied for neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003622.4(PPFIBP1):c.2413C>T (p.Arg805Ter) rs146185523 0.00001
NM_003622.4(PPFIBP1):c.1368_1369del (p.Glu456fs) rs2140228979
NM_003622.4(PPFIBP1):c.1468C>T (p.Gln490Ter) rs2140279716
NM_003622.4(PPFIBP1):c.2654del (p.Tyr885fs) rs2140520299
NM_003622.4(PPFIBP1):c.403C>T (p.Arg135Ter) rs143847599

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