ClinVar Miner

List of variants reported as pathogenic for chromosomal disorder by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000003.11:g.9387774_9503839del116066
NC_000013.11:g.46968080_87381985del40413906
NC_000017.11:g.1227482_1458196dup
NC_000022.10:g.21808950_22963000del1154051
NM_030665.4(RAI1):c.-148-13952_-148-10583del

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