ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.*37A>C rs10803415 0.90411
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=) rs2014562 0.88578
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr) rs5253 0.88476
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=) rs1889790 0.82868
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val) rs7367494 0.82537
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=) rs7368151 0.82518
NM_000085.5(CLCNKB):c.866+35A>T rs59924562 0.82506
NM_000085.5(CLCNKB):c.867-32G>A rs7365182 0.82329
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_000085.5(CLCNKB):c.1930-40A>G rs7517792 0.76354
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) rs2275166 0.70089
NM_000085.5(CLCNKB):c.498+83C>G rs2863440 0.68735
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=) rs5257 0.68719
NM_000085.5(CLCNKB):c.577-5C>T rs1889788 0.68517
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) rs2275167 0.64121
NM_000085.5(CLCNKB):c.101-50G>C rs6604910 0.53214
NM_000085.5(CLCNKB):c.1930-37T>A rs7512547 0.30011
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) rs189960510 0.00215
NM_000085.5(CLCNKB):c.2017-16C>T rs61769892
NM_000085.5(CLCNKB):c.2017-28G>C rs12746138
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) rs6698427
NM_000085.5(CLCNKB):c.230-59G>A rs2014841
NM_000085.5(CLCNKB):c.359-70A>G rs945403
NM_000085.5(CLCNKB):c.866+47del rs34589727
NM_000085.5(CLCNKB):c.968+47T>C rs7368166

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