ClinVar Miner

List of variants studied for syndrome caused by partial chromosomal deletion by Blueprint Genetics

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002397.4:c.(?_-1)_(*1_?)del
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
Single allele

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