ClinVar Miner

List of variants studied for inherited renal tubular disease by Institute of Human Genetics, University Hospital Muenster

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys) rs779393628
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284

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