ClinVar Miner

List of variants studied for inherited renal tubular disease by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 0.00001

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