ClinVar Miner

List of variants reported as pathogenic for cystic kidney disease by Stefan Somlo Laboratory, Yale School of Medicine

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.62628412_62655064del
NM_024740.2(ALG9):c.1109G>A (p.Arg370Lys) rs782464678
NM_024740.2(ALG9):c.681G>A (p.Trp227Ter) rs1592341222

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