ClinVar Miner

List of variants studied for Bartter disease type 4a by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_057176.3(BSND):c.*15G>A
NM_057176.3(BSND):c.*24A>C rs6682884
NM_057176.3(BSND):c.*56T>C
NM_057176.3(BSND):c.*6T>C
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.10G>A (p.Glu4Lys) rs121908145
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.16A>G (p.Thr6Ala) rs201342416
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.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.3G>A (p.Met1Ile) rs74315286
NM_057176.3(BSND):c.402del (p.Glu135fs) rs1281690580
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) rs750027126
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926
NM_057176.3(BSND):c.604G>A (p.Asp202Asn) rs886046423
NM_057176.3(BSND):c.635A>G (p.Asn212Ser)
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.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_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617

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