ClinVar Miner

List of variants in gene combination CLCNKB, LOC106501713 reported as pathogenic for Bartter disease type 4B

Included ClinVar conditions (2):
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Gene type:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) rs121909136 0.00009
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His) rs201540273 0.00007
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00007
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310 0.00006
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) rs202064075 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) rs777305169 0.00005
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) rs775637637 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000085.5(CLCNKB):c.1228-2A>G
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.5(CLCNKB):c.835del (p.Leu279fs)

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