ClinVar Miner

List of variants studied for inherited renal tubular disease by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

Included ClinVar conditions (198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000276.4(OCRL):c.1330C>T (p.Leu444Phe)

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