List of variants in gene combination CLCNKB, LOC106501713 reported as pathogenic for Bartter syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000085.5(CLCNKB):c.656-31del	rs751608665	0.00046
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)	rs121909136	0.00009
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)	rs202064075	0.00008
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter)	rs370221310	0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)	rs201781905	0.00006
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)	rs755714542	0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)	rs121909133	0.00004
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp)	rs777305169	0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)	rs377215024	0.00004
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu)	rs121909131	0.00003
NM_000085.5(CLCNKB):c.782-2A>G	rs779908241	0.00002
NM_000085.5(CLCNKB):c.1046C>A (p.Ala349Asp)	rs121909134	0.00001
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.937_940dup (p.Arg314delinsLysTer)	rs779593707	0.00001
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His)	rs121909135
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)	rs1180658535
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs)	rs1057516207
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs)	rs1159737562
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)	rs1570341086
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs)	rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer)	rs863224858
NM_000085.5(CLCNKB):c.619del (p.Val207fs)
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)	rs1570334344
Single allele

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