ClinVar Miner

List of variants in gene combination KCNK4, KCNK4-CATSPERZ reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_033310.3(KCNK4):c.205C>G (p.Leu69Val) rs200879755 0.00004
NM_033310.3(KCNK4):c.1087C>T (p.Arg363Cys) rs1211261052 0.00003
NM_033310.3(KCNK4):c.166C>A (p.Gln56Lys) rs1000079532 0.00003
NM_033310.3(KCNK4):c.439C>T (p.Arg147Cys) rs757444887 0.00003
NM_033310.3(KCNK4):c.440G>A (p.Arg147His) rs376946590 0.00003
NM_033310.3(KCNK4):c.506T>G (p.Val169Gly) rs762190214 0.00003
NM_033310.3(KCNK4):c.1129C>A (p.Pro377Thr) rs1044742149 0.00002
NM_033310.3(KCNK4):c.136T>C (p.Phe46Leu) rs1460974737 0.00002
NM_033310.3(KCNK4):c.218C>T (p.Ala73Val) rs868622394 0.00002
NM_033310.3(KCNK4):c.766T>A (p.Trp256Arg) rs1283277452 0.00002
NM_033310.3(KCNK4):c.1030C>A (p.Leu344Met) rs1321226094 0.00001
NM_033310.3(KCNK4):c.1075T>C (p.Cys359Arg) rs1393939823 0.00001
NM_033310.3(KCNK4):c.1085C>T (p.Pro362Leu) rs1034560077 0.00001
NM_033310.3(KCNK4):c.1088G>T (p.Arg363Leu) rs778403926 0.00001
NM_033310.3(KCNK4):c.1132G>A (p.Val378Met) rs1263269118 0.00001
NM_033310.3(KCNK4):c.1177G>C (p.Val393Leu) rs756418807 0.00001
NM_033310.3(KCNK4):c.149A>G (p.His50Arg) rs986784603 0.00001
NM_033310.3(KCNK4):c.189+3G>A rs958013446 0.00001
NM_033310.3(KCNK4):c.224C>A (p.Pro75Gln) rs917138583 0.00001
NM_033310.3(KCNK4):c.264G>A (p.Trp88Ter) rs1197665953 0.00001
NM_033310.3(KCNK4):c.300C>T (p.Ile100=) rs763746881 0.00001
NM_033310.3(KCNK4):c.328G>A (p.Ala110Thr) rs750358920 0.00001
NM_033310.3(KCNK4):c.335G>A (p.Arg112His) rs766304450 0.00001
NM_033310.3(KCNK4):c.352C>T (p.Leu118Phe) rs1212186758 0.00001
NM_033310.3(KCNK4):c.358T>C (p.Cys120Arg) rs758483618 0.00001
NM_033310.3(KCNK4):c.371C>T (p.Ala124Val) rs375558902 0.00001
NM_033310.3(KCNK4):c.376G>A (p.Val126Met) rs770320538 0.00001
NM_033310.3(KCNK4):c.404T>C (p.Leu135Pro) rs1270794262 0.00001
NM_033310.3(KCNK4):c.496C>G (p.Leu166Val) rs1245185752 0.00001
NM_033310.3(KCNK4):c.55T>G (p.Ser19Ala) rs1284935705 0.00001
NM_033310.3(KCNK4):c.563C>T (p.Thr188Met) rs2232416 0.00001
NM_033310.3(KCNK4):c.580A>G (p.Met194Val) rs1279025975 0.00001
NM_033310.3(KCNK4):c.586G>A (p.Asp196Asn) rs761711965 0.00001
NM_033310.3(KCNK4):c.620T>C (p.Ile207Thr) rs141595182 0.00001
NM_033310.3(KCNK4):c.655G>A (p.Val219Met) rs1278756760 0.00001
NM_033310.3(KCNK4):c.660C>T (p.Ala220=) rs1293225926 0.00001
NM_033310.3(KCNK4):c.661G>A (p.Gly221Ser) rs779013806 0.00001
NM_033310.3(KCNK4):c.662-13G>A rs1463140830 0.00001
NM_033310.3(KCNK4):c.664G>A (p.Ala222Thr) rs771503774 0.00001
NM_033310.3(KCNK4):c.730G>A (p.Ala244Thr) rs1189909394 0.00001
NM_033310.3(KCNK4):c.785G>A (p.Arg262His) rs769098050 0.00001
NM_033310.3(KCNK4):c.788G>A (p.Arg263His) rs376878565 0.00001
NM_033310.3(KCNK4):c.801+6C>T rs762574226 0.00001
NM_033310.3(KCNK4):c.80T>C (p.Leu27Pro) rs1424520200 0.00001
NM_033310.3(KCNK4):c.851C>A (p.Ala284Glu) rs1165305650 0.00001
NM_033310.3(KCNK4):c.894G>T (p.Glu298Asp) rs778367342 0.00001
NM_033310.3(KCNK4):c.95A>G (p.Glu32Gly) rs1405245573 0.00001
NM_033310.3(KCNK4):c.1012del (p.Asp338fs) rs1017699580
NM_033310.3(KCNK4):c.1021A>G (p.Ser341Gly) rs2495702902
NM_033310.3(KCNK4):c.1028A>G (p.Asn343Ser)
NM_033310.3(KCNK4):c.104C>T (p.Ala35Val) rs1318097813
NM_033310.3(KCNK4):c.1058C>T (p.Thr353Met) rs759401830
NM_033310.3(KCNK4):c.1069C>G (p.Arg357Gly) rs764329658
NM_033310.3(KCNK4):c.1072G>C (p.Gly358Arg) rs751692181
NM_033310.3(KCNK4):c.1082_1084del (p.Leu361del) rs2135237011
NM_033310.3(KCNK4):c.1095_1096delinsTG (p.Arg366Gly) rs2135237081
NM_033310.3(KCNK4):c.1120_1131del (p.Pro374_Pro377del) rs2495703802
NM_033310.3(KCNK4):c.1126A>G (p.Lys376Glu) rs1591232390
NM_033310.3(KCNK4):c.1128G>T (p.Lys376Asn) rs2034879235
NM_033310.3(KCNK4):c.1141C>T (p.Arg381Cys)
NM_033310.3(KCNK4):c.1142G>A (p.Arg381His) rs2495704049
NM_033310.3(KCNK4):c.1151_1160del (p.Gly384fs) rs2034880595
NM_033310.3(KCNK4):c.1151_1160dup (p.Asp388fs) rs2034880595
NM_033310.3(KCNK4):c.1160G>A (p.Arg387Gln) rs2495704254
NM_033310.3(KCNK4):c.1175C>G (p.Pro392Arg)
NM_033310.3(KCNK4):c.1175del (p.Pro392fs) rs2495704379
NM_033310.3(KCNK4):c.127C>T (p.Arg43Ter) rs1426901887
NM_033310.3(KCNK4):c.128G>A (p.Arg43Gln) rs150371580
NM_033310.3(KCNK4):c.13A>G (p.Thr5Ala)
NM_033310.3(KCNK4):c.145G>A (p.Ala49Thr) rs2034682085
NM_033310.3(KCNK4):c.152C>A (p.Pro51Gln)
NM_033310.3(KCNK4):c.169G>T (p.Glu57Ter) rs2034682909
NM_033310.3(KCNK4):c.184A>G (p.Ile62Val) rs754420092
NM_033310.3(KCNK4):c.189+5G>A rs1338286983
NM_033310.3(KCNK4):c.189G>A (p.Lys63=) rs2034683473
NM_033310.3(KCNK4):c.209G>C (p.Gly70Ala) rs2495686187
NM_033310.3(KCNK4):c.212G>C (p.Gly71Ala) rs1282571012
NM_033310.3(KCNK4):c.215G>T (p.Gly72Val) rs758007595
NM_033310.3(KCNK4):c.237_240del (p.Thr80fs) rs2495686380
NM_033310.3(KCNK4):c.248G>A (p.Ser83Asn)
NM_033310.3(KCNK4):c.300C>G (p.Ile100Met) rs763746881
NM_033310.3(KCNK4):c.307del (p.Thr103fs)
NM_033310.3(KCNK4):c.313+7G>A rs2495686876
NM_033310.3(KCNK4):c.313G>A (p.Gly105Ser)
NM_033310.3(KCNK4):c.314-9T>A rs2495687579
NM_033310.3(KCNK4):c.319G>A (p.Gly107Ser)
NM_033310.3(KCNK4):c.322A>T (p.Asn108Tyr)
NM_033310.3(KCNK4):c.332T>C (p.Leu111Pro) rs2135231642
NM_033310.3(KCNK4):c.346G>A (p.Gly116Arg) rs1405790645
NM_033310.3(KCNK4):c.346G>T (p.Gly116Trp) rs1405790645
NM_033310.3(KCNK4):c.348del (p.Arg117fs) rs1418721697
NM_033310.3(KCNK4):c.373C>A (p.Leu125Met) rs2495688100
NM_033310.3(KCNK4):c.388C>A (p.Leu130Met) rs772525985
NM_033310.3(KCNK4):c.394G>A (p.Gly132Arg) rs2135231795
NM_033310.3(KCNK4):c.394G>C (p.Gly132Arg) rs2135231795
NM_033310.3(KCNK4):c.410G>T (p.Gly137Val) rs1172207921
NM_033310.3(KCNK4):c.415G>A (p.Gly139Arg) rs2135231835
NM_033310.3(KCNK4):c.421C>T (p.Arg141Trp) rs571383808
NM_033310.3(KCNK4):c.422G>A (p.Arg141Gln)
NM_033310.3(KCNK4):c.446G>C (p.Gly149Ala) rs2495688591
NM_033310.3(KCNK4):c.451G>A (p.Gly151Ser)
NM_033310.3(KCNK4):c.454C>A (p.His152Asn) rs2135231951
NM_033310.3(KCNK4):c.461A>G (p.Glu154Gly)
NM_033310.3(KCNK4):c.468CTT[1] (p.Phe157del) rs753646402
NM_033310.3(KCNK4):c.475A>G (p.Lys159Glu) rs745387431
NM_033310.3(KCNK4):c.476A>T (p.Lys159Met)
NM_033310.3(KCNK4):c.484G>T (p.Val162Leu) rs1565369710
NM_033310.3(KCNK4):c.490C>A (p.Pro164Thr) rs1015112288
NM_033310.3(KCNK4):c.490C>G (p.Pro164Ala) rs1015112288
NM_033310.3(KCNK4):c.499G>C (p.Val167Leu)
NM_033310.3(KCNK4):c.4C>A (p.Arg2Ser) rs559128859
NM_033310.3(KCNK4):c.500T>C (p.Val167Ala) rs2495690134
NM_033310.3(KCNK4):c.504A>C (p.Arg168Ser) rs2135232363
NM_033310.3(KCNK4):c.509T>C (p.Leu170Pro) rs2495690200
NM_033310.3(KCNK4):c.511T>C (p.Ser171Pro) rs2495690217
NM_033310.3(KCNK4):c.524del (p.Phe175fs) rs754700692
NM_033310.3(KCNK4):c.527T>C (p.Leu176Pro) rs2135232415
NM_033310.3(KCNK4):c.557C>G (p.Thr186Arg) rs761615611
NM_033310.3(KCNK4):c.559C>T (p.Pro187Ser)
NM_033310.3(KCNK4):c.55T>C (p.Ser19Pro) rs1284935705
NM_033310.3(KCNK4):c.565T>A (p.Phe189Ile) rs2495690703
NM_033310.3(KCNK4):c.568G>C (p.Val190Leu) rs749304901
NM_033310.3(KCNK4):c.568_573del (p.Val190_Phe191del) rs778654284
NM_033310.3(KCNK4):c.5G>A (p.Arg2His) rs867555217
NM_033310.3(KCNK4):c.626C>T (p.Thr209Met)
NM_033310.3(KCNK4):c.697C>T (p.Pro233Ser) rs2135233682
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_033310.3(KCNK4):c.703G>T (p.Val235Leu) rs2495694380
NM_033310.3(KCNK4):c.704T>C (p.Val235Ala) rs1591230236
NM_033310.3(KCNK4):c.709T>A (p.Phe237Ile) rs2135233714
NM_033310.3(KCNK4):c.710T>C (p.Phe237Ser) rs372008891
NM_033310.3(KCNK4):c.713G>A (p.Trp238Ter) rs2495694495
NM_033310.3(KCNK4):c.724G>A (p.Gly242Ser) rs766013537
NM_033310.3(KCNK4):c.727C>G (p.Leu243Val) rs2135233759
NM_033310.3(KCNK4):c.731C>A (p.Ala244Asp) rs2495694659
NM_033310.3(KCNK4):c.731C>T (p.Ala244Val) rs2495694659
NM_033310.3(KCNK4):c.738C>A (p.Phe246Leu) rs145581707
NM_033310.3(KCNK4):c.739G>A (p.Ala247Thr) rs2135233808
NM_033310.3(KCNK4):c.73C>G (p.Arg25Gly) rs2135225544
NM_033310.3(KCNK4):c.74G>A (p.Arg25Gln) rs962540686
NM_033310.3(KCNK4):c.751A>G (p.Thr251Ala) rs1591230299
NM_033310.3(KCNK4):c.773_789del (p.Arg258fs) rs2034826770
NM_033310.3(KCNK4):c.779T>C (p.Val260Ala)
NM_033310.3(KCNK4):c.77C>T (p.Ala26Val) rs2034679555
NM_033310.3(KCNK4):c.781T>A (p.Ser261Thr) rs769858736
NM_033310.3(KCNK4):c.787C>T (p.Arg263Cys) rs762203177
NM_033310.3(KCNK4):c.796G>A (p.Ala266Thr) rs2495695131
NM_033310.3(KCNK4):c.806G>A (p.Gly269Asp)
NM_033310.3(KCNK4):c.815C>T (p.Thr272Met) rs2135236141
NM_033310.3(KCNK4):c.829A>G (p.Ser277Gly)
NM_033310.3(KCNK4):c.836C>A (p.Thr279Asn) rs763562553
NM_033310.3(KCNK4):c.847A>G (p.Thr283Ala) rs2495701358
NM_033310.3(KCNK4):c.854G>A (p.Arg285His) rs1199735109
NM_033310.3(KCNK4):c.856G>A (p.Val286Met)
NM_033310.3(KCNK4):c.866G>A (p.Arg289Gln) rs1044774283
NM_033310.3(KCNK4):c.866G>T (p.Arg289Leu) rs1044774283
NM_033310.3(KCNK4):c.871G>A (p.Gly291Arg) rs2034865482
NM_033310.3(KCNK4):c.871G>C (p.Gly291Arg) rs2034865482
NM_033310.3(KCNK4):c.875C>T (p.Pro292Leu) rs2135236362
NM_033310.3(KCNK4):c.877G>C (p.Ala293Pro)
NM_033310.3(KCNK4):c.880G>T (p.Ala294Ser) rs754106221
NM_033310.3(KCNK4):c.929C>T (p.Pro310Leu) rs2034868071
NM_033310.3(KCNK4):c.935_940dup (p.Pro313_Leu314insGlnPro) rs2495702099
NM_033310.3(KCNK4):c.948G>T (p.Arg316Ser) rs773170113
NM_033310.3(KCNK4):c.964C>G (p.Pro322Ala) rs576679008
NM_033310.3(KCNK4):c.968C>G (p.Pro323Arg) rs752675226
NM_033310.3(KCNK4):c.968C>T (p.Pro323Leu) rs752675226
NM_033310.3(KCNK4):c.969dup (p.Glu324fs) rs775736273
NM_033310.3(KCNK4):c.974A>G (p.Lys325Arg) rs2135236693

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