ClinVar Miner

List of variants in gene combination C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 reported as pathogenic for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000022.10:g.(?_18900668)_(19747220_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del

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