ClinVar Miner

List of variants reported as likely benign for Bartter disease type 4B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val) rs200268763 0.01145
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile) rs114387880 0.01060
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile) rs35530360 0.00874
NM_000085.5(CLCNKB):c.782-18A>G rs201540366 0.00547
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg) rs35258749 0.00285
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys) rs140218299 0.00104
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=) rs151266668 0.00093
NM_000085.5(CLCNKB):c.1227+11T>C rs201479763 0.00073
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=) rs79198735 0.00072
NM_000085.5(CLCNKB):c.1930-6A>G rs72474563 0.00064
NM_000085.5(CLCNKB):c.968+9C>T rs200650615 0.00061
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=) rs144157543 0.00056
NM_000085.5(CLCNKB):c.358+20G>A rs199657323 0.00053
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=) rs146084461 0.00050
NM_000085.5(CLCNKB):c.2016+19C>T rs575143198 0.00015
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=) rs140705060 0.00013
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=) rs185493054 0.00013
NM_000085.5(CLCNKB):c.392C>T (p.Ala131Val) rs550605543 0.00007
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=) rs757343183 0.00004
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=) rs759045664 0.00003
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly) rs71493533
NM_000085.5(CLCNKB):c.765C>T (p.Val255=)
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=) rs1570335636

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