ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_29390980)_(30215610_?)dup
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)dup
NC_000016.10:g.(?_29602174)_(30178709_?)dup
NC_000016.10:g.(?_29685652)_(30180586_?)dup

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