ClinVar Miner

List of variants in gene CLCNKB, LOC106501713 studied for Bartter disease type 3

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Total variants: 19
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HGVS dbSNP
NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) rs121909134
NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) rs121909135
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs) rs1057516207
NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310
NM_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) rs121909131
NM_000085.4(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs) rs1159737562
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) rs1570341086
NM_000085.5(CLCNKB):c.610G>A rs121909132
NM_000085.5(CLCNKB):c.656-31del rs751608665
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) rs1570334344
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905
NM_000085.5(CLCNKB):c.782-2A>G rs779908241
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024

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