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: 16
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HGVS dbSNP
NM_057176.3(BSND):c.-175C>T rs886046422
NM_057176.3(BSND):c.-25C>T rs188418228
NM_057176.3(BSND):c.-34G>A rs768683733
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253
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.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_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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