ClinVar Miner

List of variants reported as likely pathogenic for syndrome caused by partial chromosomal deletion by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro) rs2105822776
NM_001378120.1(MBD5):c.936dup (p.Pro313fs) rs2105627349

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