ClinVar Miner

List of variants reported as likely pathogenic for Okur-Chung neurodevelopmental syndrome by GenomeConnect - Simons Searchlight

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 20p13(chr20:378136-547319)x1
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_177559.3(CSNK2A1):c.466G>T (p.Asp156Tyr) rs1568512728
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110

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