ClinVar Miner

List of variants reported as uncertain significance for Bartter syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP
NM_000220.5(KCNJ1):c.*382G>A rs528451227
NM_000220.5(KCNJ1):c.*452G>A rs886047984
NM_000220.5(KCNJ1):c.*553C>T rs529944463
NM_000220.5(KCNJ1):c.*964A>G rs535158112
NM_000220.5(KCNJ1):c.-14T>C rs200666281
NM_000220.5(KCNJ1):c.-44T>A rs369901110
NM_000220.5(KCNJ1):c.212C>T (p.Thr71Met) rs373367600
NM_000220.5(KCNJ1):c.319A>G (p.Lys107Glu) rs185212943
NM_000220.5(KCNJ1):c.33G>A (p.Thr11=) rs147611594
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000220.5(KCNJ1):c.683G>A (p.Gly228Glu) rs761781140
NM_000220.5(KCNJ1):c.74G>A (p.Arg25Gln) rs139185738
NM_000220.5(KCNJ1):c.762C>T (p.Asp254=) rs142030262
NM_000220.5(KCNJ1):c.789C>T (p.Ile263=) rs886047985
NM_000220.5(KCNJ1):c.894T>C (p.Asp298=) rs147861417
NM_000220.5(KCNJ1):c.92G>A (p.Arg31His) rs566704910
NM_000220.5(KCNJ1):c.980C>T (p.Pro327Leu) rs746292586
NM_000338.3(SLC12A1):c.*1042C>T
NM_000338.3(SLC12A1):c.*1179A>T rs886051218
NM_000338.3(SLC12A1):c.*12T>C rs376778228
NM_000338.3(SLC12A1):c.*136G>A rs139328190
NM_000338.3(SLC12A1):c.*153T>C rs77852166
NM_000338.3(SLC12A1):c.*216A>C
NM_000338.3(SLC12A1):c.*40C>T
NM_000338.3(SLC12A1):c.*436C>G
NM_000338.3(SLC12A1):c.*496C>T
NM_000338.3(SLC12A1):c.*50A>C rs753708701
NM_000338.3(SLC12A1):c.*590T>C rs886051216
NM_000338.3(SLC12A1):c.*593A>G
NM_000338.3(SLC12A1):c.*629G>A
NM_000338.3(SLC12A1):c.*921T>C rs886051217
NM_000338.3(SLC12A1):c.-100C>T rs886051211
NM_000338.3(SLC12A1):c.-113A>C rs546606004
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys)
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) rs769806467
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile) rs886051212
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=)
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=)
NM_000338.3(SLC12A1):c.1560+10G>A rs200934309
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=)
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) rs139589325
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys)
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237
NM_000338.3(SLC12A1):c.2028C>T (p.His676=) rs145784441
NM_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu) rs768048553
NM_000338.3(SLC12A1):c.2106C>T (p.His702=) rs761397379
NM_000338.3(SLC12A1):c.2155-10T>A
NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys)
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr)
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His)
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly)
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) rs201516084
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro)
NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=) rs147684303
NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val)
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly)
NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=) rs771458863
NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=)
NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=) rs886051213
NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val)
NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr)
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) rs886051214
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met)
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) rs139832082
NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=) rs886051215
NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) rs201501478
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser)
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) rs141652885
NM_000338.3(SLC12A1):c.3165-5A>T
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp)
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser) rs747096443
NM_000338.3(SLC12A1):c.381C>T (p.Asn127=) rs370459859
NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn)
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr) rs116848967
NM_000338.3(SLC12A1):c.462C>T (p.Asn154=)
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser)
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) rs142360465
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala)
NM_000338.3(SLC12A1):c.724+15A>T
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala)
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=)
NM_057176.3(BSND):c.*15G>A
NM_057176.3(BSND):c.*56T>C
NM_057176.3(BSND):c.*6T>C
NM_057176.3(BSND):c.-175C>T rs886046422
NM_057176.3(BSND):c.-34G>A rs768683733
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497
NM_057176.3(BSND):c.261C>T (p.Ala87=)
NM_057176.3(BSND):c.294T>C (p.Tyr98=)
NM_057176.3(BSND):c.306G>T (p.Trp102Cys)
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335
NM_057176.3(BSND):c.393G>T (p.Leu131Phe)
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) rs750027126
NM_057176.3(BSND):c.604G>A (p.Asp202Asn) rs886046423
NM_057176.3(BSND):c.635A>G (p.Asn212Ser)
NM_057176.3(BSND):c.696G>A (p.Arg232=) rs886046424
NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) rs752564097
NM_057176.3(BSND):c.758C>T (p.Pro253Leu)
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536
NM_153766.3(KCNJ1):c.798C>A (p.Thr266=) rs139777470
NM_153767.4(KCNJ1):c.*737T>C
NM_153767.4(KCNJ1):c.*83G>A
NM_153767.4(KCNJ1):c.*864G>T
NM_153767.4(KCNJ1):c.*968T>A
NM_153767.4(KCNJ1):c.-21-2138C>T
NM_153767.4(KCNJ1):c.-21-2258G>A rs886047986
NM_153767.4(KCNJ1):c.156G>C (p.Thr52=)
NM_153767.4(KCNJ1):c.27C>T (p.Val9=)
NM_153767.4(KCNJ1):c.706G>A (p.Ala236Thr)
NM_153767.4(KCNJ1):c.798C>T (p.Thr266=)
NM_153767.4(KCNJ1):c.842C>T (p.Thr281Ile)
NM_153767.4(KCNJ1):c.87G>A (p.Arg29=)
NM_153767.4(KCNJ1):c.946G>A (p.Gly316Arg)

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