ClinVar Miner

List of variants reported as uncertain significance for EAST syndrome by Illumina Laboratory Services, Illumina

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_002241.5(KCNJ10):c.*1161T>C rs149832483 0.00464
NM_002241.5(KCNJ10):c.*2034C>T rs192835895 0.00345
NM_002241.5(KCNJ10):c.*2479G>A rs142986779 0.00181
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_002241.5(KCNJ10):c.*1435C>T rs150657925 0.00127
NM_002241.5(KCNJ10):c.*3853G>C rs138599071 0.00112
NM_002241.5(KCNJ10):c.*21A>G rs377019389 0.00080
NM_002241.5(KCNJ10):c.*362A>T rs528816212 0.00078
NM_002241.5(KCNJ10):c.*1789G>A rs542638955 0.00072
NM_002241.5(KCNJ10):c.*3130C>A rs558975322 0.00066
NM_002241.5(KCNJ10):c.*3737A>G rs535970310 0.00066
NM_002241.5(KCNJ10):c.*3919G>A rs141118901 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_002241.5(KCNJ10):c.*2001T>C rs1000595958 0.00059
NM_002241.5(KCNJ10):c.*2827C>T rs183270733 0.00059
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) rs138457635 0.00041
NM_002241.5(KCNJ10):c.*3158C>T rs777813628 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_002241.5(KCNJ10):c.*734C>T rs778432509 0.00029
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_002241.5(KCNJ10):c.*2649G>A rs886045399 0.00020
NM_002241.5(KCNJ10):c.*1788C>T rs550315680 0.00019
NM_002241.5(KCNJ10):c.*3170G>A rs886045395 0.00019
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_002241.5(KCNJ10):c.*3617A>T rs754184905 0.00016
NM_002241.5(KCNJ10):c.*73C>T rs184428585 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) rs375361490 0.00011
NM_002241.5(KCNJ10):c.*171C>T rs539110996 0.00010
NM_002241.5(KCNJ10):c.*2554G>A rs773976668 0.00008
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154 0.00008
NM_002241.5(KCNJ10):c.*2520C>T rs886045401 0.00007
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257 0.00007
NM_002241.5(KCNJ10):c.*1653T>C rs886045407 0.00006
NM_002241.5(KCNJ10):c.*2754G>C rs1027968987 0.00006
NM_002241.5(KCNJ10):c.*3074C>T rs181875026 0.00006
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) rs368537434 0.00006
NM_002241.5(KCNJ10):c.*2516C>T rs887195639 0.00005
NM_002241.5(KCNJ10):c.*1165G>A rs886045408 0.00004
NM_002241.5(KCNJ10):c.*2373C>T rs117037263 0.00004
NM_002241.5(KCNJ10):c.*868C>T rs753707600 0.00004
NM_002241.5(KCNJ10):c.*991A>G rs187278337 0.00004
NM_002241.5(KCNJ10):c.*1855T>C rs886045405 0.00003
NM_002241.5(KCNJ10):c.*3180G>C rs758537153 0.00003
NM_002241.5(KCNJ10):c.*347C>T rs777312868 0.00003
NM_002241.5(KCNJ10):c.*3770C>T rs886045394 0.00003
NM_002241.5(KCNJ10):c.*2406T>C rs771363724 0.00002
NM_002241.5(KCNJ10):c.*2624G>A rs745675740 0.00002
NM_002241.5(KCNJ10):c.*680T>G rs886045411 0.00002
NM_002241.5(KCNJ10):c.*237A>G rs886045412 0.00001
NM_002241.5(KCNJ10):c.*3104T>A rs376496371 0.00001
NM_002241.5(KCNJ10):c.*3458G>A rs543628318 0.00001
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002241.5(KCNJ10):c.*1048A>T rs1648573456
NM_002241.5(KCNJ10):c.*1258G>A rs139904051
NM_002241.5(KCNJ10):c.*1809C>T rs781009174
NM_002241.5(KCNJ10):c.*1827T>C rs886045406
NM_002241.5(KCNJ10):c.*2896T>C rs1648528740
NM_002241.5(KCNJ10):c.*2971G>A rs886045397
NM_002241.5(KCNJ10):c.*3023T>C rs886045396
NM_002241.5(KCNJ10):c.*3840T>C rs886045393
NM_002241.5(KCNJ10):c.*729G>C rs886045410
NM_002241.5(KCNJ10):c.*793C>A rs560891462
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763

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