ClinVar Miner

List of variants reported as likely benign for EAST syndrome by Invitae

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619 0.00008
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257 0.00007
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) rs368537434 0.00006
NM_002241.5(KCNJ10):c.225T>C (p.Phe75=) rs757159382 0.00006
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483 0.00006
NM_002241.5(KCNJ10):c.240C>T (p.Phe80=) rs774758209 0.00005
NM_002241.5(KCNJ10):c.273G>A (p.Val91=) rs745340219 0.00005
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976 0.00004
NM_002241.5(KCNJ10):c.135C>T (p.Ala45=) rs1397547909 0.00004
NM_002241.5(KCNJ10):c.705T>C (p.Asn235=) rs554749579 0.00004
NM_002241.5(KCNJ10):c.312C>T (p.Asn104=) rs753009348 0.00002
NM_002241.5(KCNJ10):c.528T>C (p.Ala176=) rs1057520295 0.00002
NM_002241.5(KCNJ10):c.729C>T (p.Ala243=) rs756703582 0.00002
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_002241.5(KCNJ10):c.1101G>A (p.Lys367=) rs777227509 0.00001
NM_002241.5(KCNJ10):c.1134T>C (p.Asn378=) rs773446859 0.00001
NM_002241.5(KCNJ10):c.117G>T (p.Val39=) rs898999212 0.00001
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861 0.00001
NM_002241.5(KCNJ10):c.222C>T (p.Thr74=) rs778972804 0.00001
NM_002241.5(KCNJ10):c.336G>A (p.Val112=) rs781357184 0.00001
NM_002241.5(KCNJ10):c.424C>T (p.Leu142=) rs1348882970 0.00001
NM_002241.5(KCNJ10):c.501G>A (p.Ala167=) rs200522826 0.00001
NM_002241.5(KCNJ10):c.54G>A (p.Arg18=) rs775905879 0.00001
NM_002241.5(KCNJ10):c.732T>C (p.Ser244=) rs761696279 0.00001
NM_002241.5(KCNJ10):c.1011C>T (p.Ala337=)
NM_002241.5(KCNJ10):c.1023C>A (p.Gly341=)
NM_002241.5(KCNJ10):c.1032C>T (p.Asp344=) rs186165644
NM_002241.5(KCNJ10):c.1041A>G (p.Val347=)
NM_002241.5(KCNJ10):c.1044C>T (p.Arg348=)
NM_002241.5(KCNJ10):c.1069T>C (p.Leu357=) rs370664864
NM_002241.5(KCNJ10):c.1077G>A (p.Glu359=) rs1209084957
NM_002241.5(KCNJ10):c.1081T>C (p.Leu361=)
NM_002241.5(KCNJ10):c.1104G>A (p.Glu368=) rs767462808
NM_002241.5(KCNJ10):c.1110T>C (p.Ser370=) rs1160156950
NM_002241.5(KCNJ10):c.111C>T (p.Ser37=)
NM_002241.5(KCNJ10):c.117G>A (p.Val39=) rs898999212
NM_002241.5(KCNJ10):c.135C>A (p.Ala45=)
NM_002241.5(KCNJ10):c.159G>A (p.Lys53=)
NM_002241.5(KCNJ10):c.162C>T (p.Asp54=)
NM_002241.5(KCNJ10):c.180T>C (p.Ile60=)
NM_002241.5(KCNJ10):c.21G>T (p.Val7=) rs750227861
NM_002241.5(KCNJ10):c.234A>C (p.Thr78=) rs748359138
NM_002241.5(KCNJ10):c.234A>G (p.Thr78=) rs748359138
NM_002241.5(KCNJ10):c.282G>A (p.Gly94=)
NM_002241.5(KCNJ10):c.294G>A (p.Glu98=)
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002241.5(KCNJ10):c.300C>T (p.Asp100=) rs139069413
NM_002241.5(KCNJ10):c.306G>A (p.Pro102=)
NM_002241.5(KCNJ10):c.30T>C (p.Ser10=)
NM_002241.5(KCNJ10):c.339C>T (p.His113=) rs2101924994
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944
NM_002241.5(KCNJ10):c.36C>A (p.Thr12=)
NM_002241.5(KCNJ10):c.447C>T (p.Ala149=)
NM_002241.5(KCNJ10):c.459C>T (p.Leu153=) rs1467302352
NM_002241.5(KCNJ10):c.469C>T (p.Leu157=)
NM_002241.5(KCNJ10):c.496C>T (p.Leu166=) rs1648619326
NM_002241.5(KCNJ10):c.504G>A (p.Lys168=)
NM_002241.5(KCNJ10):c.516C>A (p.Pro172=)
NM_002241.5(KCNJ10):c.552T>C (p.His184=)
NM_002241.5(KCNJ10):c.573T>C (p.Asn191=)
NM_002241.5(KCNJ10):c.585C>T (p.Cys195=)
NM_002241.5(KCNJ10):c.621C>T (p.Leu207=)
NM_002241.5(KCNJ10):c.633C>T (p.Cys211=)
NM_002241.5(KCNJ10):c.642A>G (p.Thr214=)
NM_002241.5(KCNJ10):c.645A>G (p.Gly215=)
NM_002241.5(KCNJ10):c.684C>T (p.Asn228=) rs533587041
NM_002241.5(KCNJ10):c.687C>T (p.Ile229=) rs2101924803
NM_002241.5(KCNJ10):c.699G>A (p.Gln233=)
NM_002241.5(KCNJ10):c.6G>A (p.Thr2=)
NM_002241.5(KCNJ10):c.765C>T (p.Phe255=)
NM_002241.5(KCNJ10):c.771T>C (p.His257=) rs775848365
NM_002241.5(KCNJ10):c.813C>T (p.Arg271=)
NM_002241.5(KCNJ10):c.825T>C (p.Gly275=)
NM_002241.5(KCNJ10):c.831T>C (p.Phe277=) rs2101924716
NM_002241.5(KCNJ10):c.882T>C (p.Cys294=)
NM_002241.5(KCNJ10):c.894T>G (p.Thr298=) rs1648609189
NM_002241.5(KCNJ10):c.91C>T (p.Leu31=) rs2101925173
NM_002241.5(KCNJ10):c.93G>A (p.Leu31=) rs1648632037
NM_002241.5(KCNJ10):c.96A>C (p.Thr32=) rs2101925165
NM_002241.5(KCNJ10):c.981T>C (p.Phe327=)
NM_002241.5(KCNJ10):c.984C>T (p.Ser328=) rs1193299030
NM_002241.5(KCNJ10):c.993C>T (p.Asp331=) rs1240138840

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