ClinVar Miner

List of variants studied for Kleefstra syndrome by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024757.5(EHMT1):c.3443del (p.Pro1148fs) rs1588875719
NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) rs1956451830

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