ClinVar Miner

List of variants reported as benign for Bartter syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_000338.3(SLC12A1):c.2296-21A>G rs1484551 0.99047
NM_004070.4(CLCNKA):c.1929+31A>G rs10927893 0.91898
NM_000338.3(SLC12A1):c.*1084A>T rs12438818 0.90572
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_000338.3(SLC12A1):c.*110G>T rs8025278 0.82831
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_000338.3(SLC12A1):c.*284A>G rs12902028 0.82288
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_000085.5(CLCNKB):c.1930-40A>G rs7517792 0.76354
NM_004070.4(CLCNKA):c.1623-57T>C rs2015509 0.70166
NM_004070.4(CLCNKA):c.1846-6T>C rs10803407 0.70157
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_057176.3(BSND):c.-70C>G rs2500341 0.67045
NM_057176.3(BSND):c.-117T>C rs2500340 0.66208
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) rs2275167 0.64121
NM_004070.4(CLCNKA):c.782-36G>C rs10927889 0.61574
NM_004070.4(CLCNKA):c.1757-13C>G rs6669935 0.60387
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_000085.5(CLCNKB):c.101-50G>C rs6604910 0.53214
NM_057176.3(BSND):c.*175C>G rs4339899 0.46025
NM_177433.3(MAGED2):c.396A>G (p.Thr132=) rs1043034 0.44970
NM_057176.3(BSND):c.*24A>C rs6682884 0.43300
NM_177433.3(MAGED2):c.624C>T (p.Ala208=) rs1043044 0.39177
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311 0.37763
NM_177433.3(MAGED2):c.981C>T (p.Ser327=) rs2071932 0.35983
NM_177433.3(MAGED2):c.252A>G (p.Ser84=) rs1043031 0.33668
NM_000085.5(CLCNKB):c.1930-37T>A rs7512547 0.30011
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617 0.18512
NM_057176.3(BSND):c.177+11G>A rs78904893 0.06761
NM_000338.3(SLC12A1):c.-136A>G rs35787656 0.04798
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_057176.3(BSND):c.-241G>A rs12069526 0.04585
NM_000338.3(SLC12A1):c.*126T>C rs7165179 0.03546
NM_000338.3(SLC12A1):c.*101C>A rs55707440 0.02084
NM_000338.3(SLC12A1):c.*300T>C rs78562329 0.01932
NM_057176.3(BSND):c.*94A>G rs80300625 0.01711
NM_000338.3(SLC12A1):c.*158C>T rs7163846 0.01443
NM_000338.3(SLC12A1):c.2630-7G>A rs34063058 0.00623
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900 0.00402
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_057176.3(BSND):c.-25C>T rs188418228 0.00331
NM_057176.3(BSND):c.-156G>C rs183925883 0.00313
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) rs144128875 0.00249
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) rs189960510 0.00215
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960 0.00131
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980 0.00111
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) rs117535913 0.00039
NM_004070.4(CLCNKA):c.867-8C>T rs200325856 0.00011
NM_153766.3(KCNJ1):c.*348C>T rs368293891 0.00002
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.80G>T (p.Arg27Leu) rs2015352
NM_000085.5(CLCNKB):c.866+47del rs34589727
NM_000085.5(CLCNKB):c.968+47T>C rs7368166
NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr) rs1805152
NM_004070.4(CLCNKA):c.1408+13C>T rs3737218
NM_004070.4(CLCNKA):c.1929+30C>A rs10927892

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