ClinVar Miner

List of variants studied 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: 29
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HGVS dbSNP
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_057176.3(BSND):c.*175C>G rs4339899
NM_057176.3(BSND):c.*24A>C rs6682884
NM_057176.3(BSND):c.*94A>G rs80300625
NM_057176.3(BSND):c.-117T>C rs2500340
NM_057176.3(BSND):c.-156G>C rs183925883
NM_057176.3(BSND):c.-175C>T rs886046422
NM_057176.3(BSND):c.-241G>A rs12069526
NM_057176.3(BSND):c.-25C>T rs188418228
NM_057176.3(BSND):c.-34G>A rs768683733
NM_057176.3(BSND):c.-70C>G rs2500341
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289
NM_057176.3(BSND):c.177+11G>A rs78904893
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580
NM_057176.3(BSND):c.604G>A (p.Asp202Asn) rs886046423
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486
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.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617
NM_153767.3(KCNJ1):c.155C>T (p.Thr52Met) rs373367600
NM_153767.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868
NM_153767.3(KCNJ1):c.626G>A (p.Gly209Glu) rs761781140

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