ClinVar Miner

List of variants reported as likely benign for Bartter syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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NM_000220.5(KCNJ1):c.*16G>A rs3181542
NM_000220.5(KCNJ1):c.*507C>T rs142091896
NM_000220.5(KCNJ1):c.*88G>A rs117795695
NM_000220.5(KCNJ1):c.625C>T (p.Leu209Phe) rs188249669
NM_000220.5(KCNJ1):c.849G>A (p.Ala283=) rs567888166
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=) rs150609105
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser) rs372350814
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His)
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) rs188295259
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602

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