ClinVar Miner

List of variants studied for inherited renal tubular disease by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001127898.4(CLCN5):c.1628T>C (p.Met543Thr)
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp) rs537004785

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