ClinVar Miner

List of variants reported for Bartter disease type 3; Bartter disease type 4B by Fulgent Genetics, Fulgent Genetics

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Total variants: 50
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HGVS dbSNP gnomAD frequency
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.1463C>A (p.Ala488Asp) rs145862077 0.00022
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.1375A>C (p.Asn459His) rs765895186 0.00012
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) rs121909136 0.00009
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile) rs745782009 0.00009
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val) rs371971275 0.00008
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) rs202064075 0.00008
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr) rs553594726 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=) rs139304412 0.00005
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=) rs757343183 0.00004
NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys) rs779196821 0.00004
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu) rs370019965 0.00004
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) rs777305169 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) rs375288190 0.00003
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val) rs146627440 0.00003
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=) rs759045664 0.00003
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln) rs746767761 0.00002
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) rs775637637 0.00001
NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys) rs1400122692 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His) rs387907411 0.00001
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His) rs779327388 0.00001
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser) rs2023168679 0.00001
GRCh37/hg19 1p36.13(chr1:16370960-16383841)
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) rs6698427
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) rs1557468183
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly) rs71493533
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=) rs1570335636

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