ClinVar Miner

List of variants studied for Bartter disease type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
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.-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.-21-2167T>C rs200666281 0.00014
NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe) rs188249669 0.00010
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.155C>T (p.Thr52Met) rs373367600 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.*348C>T rs368293891 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.35G>A (p.Arg12His) rs566704910 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.87G>A (p.Arg29=) rs909572402 0.00001
NM_153766.3(KCNJ1):c.*452G>A rs886047984
NM_153766.3(KCNJ1):c.*968T>A rs565893144
NM_153766.3(KCNJ1):c.156G>C (p.Thr52=) rs141393013
NM_153766.3(KCNJ1):c.27C>T (p.Val9=) rs759301135
NM_153766.3(KCNJ1):c.798C>T (p.Thr266=) rs139777470
NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu) rs746292586
NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg) rs1943225988

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