ClinVar Miner

List of variants in gene KCNJ1 studied for Bartter syndrome

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_153766.3(KCNJ1):c.*16G>A rs3181542 0.00566
NM_153766.3(KCNJ1):c.*801C>T rs7117664 0.00429
NM_153766.3(KCNJ1):c.*864G>T rs139805663 0.00272
NM_153766.3(KCNJ1):c.*507C>T rs142091896 0.00248
NM_153766.3(KCNJ1):c.837T>C (p.Asp279=) rs147861417 0.00120
NM_153766.3(KCNJ1):c.-21-2121G>A rs147611594 0.00089
NM_153766.3(KCNJ1):c.17G>A (p.Arg6Gln) rs139185738 0.00087
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505 0.00078
NM_153766.3(KCNJ1):c.-21-2138C>T rs34191956 0.00071
NM_153766.3(KCNJ1):c.-21-2197T>A rs369901110 0.00059
NM_153766.3(KCNJ1):c.*88G>A rs117795695 0.00043
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu) rs185212943 0.00043
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) rs117535913 0.00039
NM_153766.3(KCNJ1):c.798C>A (p.Thr266=) rs139777470 0.00029
NM_153766.3(KCNJ1):c.*964A>G rs535158112 0.00025
NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala) rs138440917 0.00022
NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile) rs141900128 0.00015
NM_153766.3(KCNJ1):c.-21-2167T>C rs200666281 0.00014
NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly) rs748305494 0.00011
NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe) rs188249669 0.00010
NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg) rs201176686 0.00008
NM_153766.3(KCNJ1):c.506G>A (p.Arg169His) rs759992526 0.00007
NM_153766.3(KCNJ1):c.*737T>C rs907072165 0.00006
NM_153766.3(KCNJ1):c.*83G>A rs998934787 0.00006
NM_153766.3(KCNJ1):c.-21-2258G>A rs886047986 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_153766.3(KCNJ1):c.705C>T (p.Asp235=) rs142030262 0.00006
NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys) rs139738175 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met) rs373367600 0.00003
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_153766.3(KCNJ1):c.626G>A (p.Gly209Glu) rs761781140 0.00003
NM_153766.3(KCNJ1):c.792G>A (p.Ala264=) rs567888166 0.00003
NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile) rs762988627 0.00003
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432 0.00003
NM_153766.3(KCNJ1):c.*348C>T rs368293891 0.00002
NM_153766.3(KCNJ1):c.-21-2122C>T rs111249880 0.00002
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00002
NM_153766.3(KCNJ1):c.*382G>A rs528451227 0.00001
NM_153766.3(KCNJ1):c.*553C>T rs529944463 0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) rs387907439 0.00001
NM_153766.3(KCNJ1):c.35G>A (p.Arg12His) rs566704910 0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) rs104894254 0.00001
NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp) rs779864905 0.00001
NM_153766.3(KCNJ1):c.706G>A (p.Ala236Thr) rs147621487 0.00001
NM_153766.3(KCNJ1):c.732C>T (p.Ile244=) rs886047985 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_153766.3(KCNJ1):c.87G>A (p.Arg29=) rs909572402 0.00001
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly) rs753949204 0.00001
KCNJ1, TRP58TER
NM_153766.3(KCNJ1):c.*1C>G
NM_153766.3(KCNJ1):c.*452G>A rs886047984
NM_153766.3(KCNJ1):c.*968T>A rs565893144
NM_153766.3(KCNJ1):c.-9A>G
NM_153766.3(KCNJ1):c.1001del (p.Pro334fs) rs768286324
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
NM_153766.3(KCNJ1):c.156G>C (p.Thr52=) rs141393013
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter) rs104894244
NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)
NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)
NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter) rs185212943
NM_153766.3(KCNJ1):c.265G>C (p.Asp89His) rs104894250
NM_153766.3(KCNJ1):c.27C>T (p.Val9=) rs759301135
NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys) rs104894251
NM_153766.3(KCNJ1):c.361G>A (p.Val121Met)
NM_153766.3(KCNJ1):c.42dup (p.Gly15fs) rs2135941091
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
NM_153766.3(KCNJ1):c.504del (p.Lys168fs) rs769554073
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser) rs138120505
NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) rs104894253
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) rs1380025163
NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro) rs150299230
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg) rs104894245
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) rs1411280373
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)
NM_153766.3(KCNJ1):c.798C>T (p.Thr266=) rs139777470
NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)
NM_153766.3(KCNJ1):c.842C>G (p.Thr281Arg) rs762988627
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)
NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu) rs746292586
NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg) rs1943225988

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