List of variants in gene KCNA1 reported as uncertain significance by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 181

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HGVS	dbSNP	gnomAD frequency
NM_000217.3(KCNA1):c.136C>A (p.Leu46Met)	rs149959487	0.00021
NM_000217.3(KCNA1):c.1320C>A (p.Asp440Glu)	rs182735896	0.00004
NM_000217.3(KCNA1):c.1449A>T (p.Gln483His)	rs372539672	0.00004
NM_000217.3(KCNA1):c.53A>C (p.His18Pro)	rs367921276	0.00003
NM_000217.3(KCNA1):c.631A>G (p.Ile211Val)	rs775789299	0.00003
NM_000217.3(KCNA1):c.641C>T (p.Ser214Phe)	rs764561596	0.00003
NM_000217.3(KCNA1):c.179A>G (p.Asn60Ser)	rs752067203	0.00002
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn)	rs747465523	0.00002
NM_000217.3(KCNA1):c.667A>G (p.Ile223Val)	rs146948558	0.00002
NM_000217.3(KCNA1):c.709G>A (p.Val237Met)	rs1428881435	0.00002
NM_000217.3(KCNA1):c.1061C>T (p.Ser354Leu)	rs1259861866	0.00001
NM_000217.3(KCNA1):c.1328G>A (p.Arg443His)	rs139383685	0.00001
NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr)	rs1481224137	0.00001
NM_000217.3(KCNA1):c.1382T>C (p.Met461Thr)	rs767068909	0.00001
NM_000217.3(KCNA1):c.1415A>G (p.Asn472Ser)	rs150612442	0.00001
NM_000217.3(KCNA1):c.145G>C (p.Glu49Gln)	rs1384353122	0.00001
NM_000217.3(KCNA1):c.208A>G (p.Met70Val)	rs1220977526	0.00001
NM_000217.3(KCNA1):c.224C>A (p.Pro75His)	rs897263951	0.00001
NM_000217.3(KCNA1):c.289C>A (p.Gln97Lys)	rs1166033590	0.00001
NM_000217.3(KCNA1):c.361G>A (p.Glu121Lys)	rs1463513823	0.00001
NM_000217.3(KCNA1):c.404G>C (p.Gly135Ala)	rs1947353268	0.00001
NM_000217.3(KCNA1):c.410T>C (p.Ile137Thr)	rs780062452	0.00001
NM_000217.3(KCNA1):c.445T>C (p.Tyr149His)	rs767728993	0.00001
NM_000217.3(KCNA1):c.475T>C (p.Tyr159His)	rs764645312	0.00001
NM_000217.3(KCNA1):c.49G>C (p.Gly17Arg)	rs1324506346	0.00001
NM_000217.3(KCNA1):c.596C>T (p.Thr199Met)	rs1207573200	0.00001
NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp)	rs373645838	0.00001
NM_000217.3(KCNA1):c.825G>T (p.Glu275Asp)	rs1947356761	0.00001
NM_000217.3(KCNA1):c.995T>C (p.Phe332Ser)	rs752533303	0.00001
NC_000012.12:g.(?_4911359)_(4912886_?)dup
NM_000217.3(KCNA1):c.1003A>T (p.Ile335Phe)
NM_000217.3(KCNA1):c.1004T>A (p.Ile335Asn)
NM_000217.3(KCNA1):c.1009G>A (p.Val337Ile)
NM_000217.3(KCNA1):c.101_102insCGTCCACGA (p.His33_Glu34insAspValHis)	rs2137672775
NM_000217.3(KCNA1):c.1034A>G (p.Tyr345Cys)
NM_000217.3(KCNA1):c.103T>C (p.Cys35Arg)
NM_000217.3(KCNA1):c.1046C>A (p.Ala349Glu)	rs1361446640
NM_000217.3(KCNA1):c.1093T>C (p.Trp365Arg)	rs2137673868
NM_000217.3(KCNA1):c.1121G>C (p.Gly374Ala)	rs2137673886
NM_000217.3(KCNA1):c.1126G>A (p.Gly376Ser)	rs1555085786
NM_000217.3(KCNA1):c.1132A>G (p.Met378Val)
NM_000217.3(KCNA1):c.1141G>A (p.Val381Met)
NM_000217.3(KCNA1):c.1150G>A (p.Gly384Arg)	rs1947358468
NM_000217.3(KCNA1):c.1166G>A (p.Gly389Asp)
NM_000217.3(KCNA1):c.1201G>A (p.Ala401Thr)	rs2137673966
NM_000217.3(KCNA1):c.1207C>A (p.Pro403Thr)	rs1591627924
NM_000217.3(KCNA1):c.1229A>C (p.Asn410Thr)
NM_000217.3(KCNA1):c.1258G>C (p.Glu420Gln)
NM_000217.3(KCNA1):c.1260G>C (p.Glu420Asp)
NM_000217.3(KCNA1):c.1266A>C (p.Glu422Asp)
NM_000217.3(KCNA1):c.1277A>G (p.Gln426Arg)
NM_000217.3(KCNA1):c.1287C>A (p.His429Gln)
NM_000217.3(KCNA1):c.1287C>G (p.His429Gln)	rs756549028
NM_000217.3(KCNA1):c.1288G>A (p.Val430Ile)
NM_000217.3(KCNA1):c.1288G>C (p.Val430Leu)	rs749598869
NM_000217.3(KCNA1):c.1288G>T (p.Val430Phe)
NM_000217.3(KCNA1):c.1297C>T (p.Pro433Ser)
NM_000217.3(KCNA1):c.1298C>G (p.Pro433Arg)	rs1392938918
NM_000217.3(KCNA1):c.1306G>C (p.Ala436Pro)
NM_000217.3(KCNA1):c.1325G>C (p.Ser442Thr)	rs1947359738
NM_000217.3(KCNA1):c.1327C>T (p.Arg443Cys)	rs150849316
NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly)	rs768749436
NM_000217.3(KCNA1):c.1347G>A (p.Met449Ile)
NM_000217.3(KCNA1):c.1363A>G (p.Met455Val)	rs1173585397
NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys)	rs886049512
NM_000217.3(KCNA1):c.1366G>A (p.Glu456Lys)
NM_000217.3(KCNA1):c.1372G>T (p.Glu458Ter)	rs1430522715
NM_000217.3(KCNA1):c.1378G>T (p.Asp460Tyr)	rs754731331
NM_000217.3(KCNA1):c.1381A>G (p.Met461Val)
NM_000217.3(KCNA1):c.1383G>A (p.Met461Ile)
NM_000217.3(KCNA1):c.1393A>G (p.Ile465Val)
NM_000217.3(KCNA1):c.1397C>A (p.Ala466Asp)	rs1303950325
NM_000217.3(KCNA1):c.139C>A (p.Arg47Ser)
NM_000217.3(KCNA1):c.1400A>G (p.His467Arg)	rs368829607
NM_000217.3(KCNA1):c.140G>C (p.Arg47Pro)
NM_000217.3(KCNA1):c.1411G>T (p.Val471Phe)
NM_000217.3(KCNA1):c.1422A>C (p.Arg474Ser)	rs2137674271
NM_000217.3(KCNA1):c.1430A>G (p.Asn477Ser)	rs1222837086
NM_000217.3(KCNA1):c.1438A>G (p.Thr480Ala)
NM_000217.3(KCNA1):c.1442C>T (p.Ala481Val)	rs1430294104
NM_000217.3(KCNA1):c.1453T>A (p.Cys485Ser)	rs1470787858
NM_000217.3(KCNA1):c.1455C>A (p.Cys485Ter)	rs1406153214
NM_000217.3(KCNA1):c.1456G>A (p.Val486Ile)	rs766403463
NM_000217.3(KCNA1):c.1456G>T (p.Val486Phe)
NM_000217.3(KCNA1):c.1477A>G (p.Thr493Ala)	rs2137674354
NM_000217.3(KCNA1):c.152A>T (p.Gln51Leu)
NM_000217.3(KCNA1):c.159G>C (p.Lys53Asn)	rs370288610
NM_000217.3(KCNA1):c.206G>C (p.Arg69Pro)	rs2137672874
NM_000217.3(KCNA1):c.214T>C (p.Tyr72His)	rs2137672886
NM_000217.3(KCNA1):c.220G>A (p.Asp74Asn)
NM_000217.3(KCNA1):c.220G>T (p.Asp74Tyr)
NM_000217.3(KCNA1):c.235G>T (p.Glu79Ter)
NM_000217.3(KCNA1):c.250C>G (p.Arg84Gly)
NM_000217.3(KCNA1):c.257G>C (p.Arg86Pro)
NM_000217.3(KCNA1):c.260C>G (p.Pro87Arg)
NM_000217.3(KCNA1):c.263G>A (p.Ser88Asn)
NM_000217.3(KCNA1):c.268G>A (p.Asp90Asn)
NM_000217.3(KCNA1):c.295G>A (p.Gly99Ser)
NM_000217.3(KCNA1):c.312G>T (p.Arg104Ser)	rs1947352517
NM_000217.3(KCNA1):c.316G>A (p.Val106Ile)	rs2137672979
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala)	rs886049510
NM_000217.3(KCNA1):c.322G>C (p.Val108Leu)
NM_000217.3(KCNA1):c.325C>T (p.Pro109Ser)
NM_000217.3(KCNA1):c.337T>A (p.Phe113Ile)	rs2137673007
NM_000217.3(KCNA1):c.340T>A (p.Ser114Thr)
NM_000217.3(KCNA1):c.341C>T (p.Ser114Phe)	rs1591627522
NM_000217.3(KCNA1):c.352A>G (p.Lys118Glu)
NM_000217.3(KCNA1):c.353A>G (p.Lys118Arg)
NM_000217.3(KCNA1):c.370G>A (p.Glu124Lys)	rs1555085687
NM_000217.3(KCNA1):c.380T>C (p.Met127Thr)	rs2137673060
NM_000217.3(KCNA1):c.383A>G (p.Glu128Gly)
NM_000217.3(KCNA1):c.401A>G (p.Glu134Gly)
NM_000217.3(KCNA1):c.409A>G (p.Ile137Val)
NM_000217.3(KCNA1):c.421G>A (p.Glu141Lys)	rs934102011
NM_000217.3(KCNA1):c.424C>A (p.Arg142Ser)	rs1947353456
NM_000217.3(KCNA1):c.427C>T (p.Pro143Ser)
NM_000217.3(KCNA1):c.430C>G (p.Leu144Val)
NM_000217.3(KCNA1):c.436G>C (p.Glu146Gln)
NM_000217.3(KCNA1):c.436G>T (p.Glu146Ter)
NM_000217.3(KCNA1):c.447C>A (p.Tyr149Ter)
NM_000217.3(KCNA1):c.451C>T (p.Arg151Cys)	rs1947353744
NM_000217.3(KCNA1):c.458T>C (p.Val153Ala)
NM_000217.3(KCNA1):c.471_472insTCC (p.Phe157_Glu158insSer)
NM_000217.3(KCNA1):c.481G>A (p.Glu161Lys)
NM_000217.3(KCNA1):c.496G>A (p.Ala166Thr)	rs1179635654
NM_000217.3(KCNA1):c.511A>G (p.Ile171Val)
NM_000217.3(KCNA1):c.520G>A (p.Val174Ile)	rs104894349
NM_000217.3(KCNA1):c.559G>A (p.Glu187Lys)	rs1565433190
NM_000217.3(KCNA1):c.559G>C (p.Glu187Gln)
NM_000217.3(KCNA1):c.577A>G (p.Lys193Glu)
NM_000217.3(KCNA1):c.585C>G (p.Asp195Glu)	rs1947354740
NM_000217.3(KCNA1):c.58C>A (p.Gln20Lys)
NM_000217.3(KCNA1):c.598G>C (p.Gly200Arg)
NM_000217.3(KCNA1):c.599G>C (p.Gly200Ala)	rs1411072418
NM_000217.3(KCNA1):c.59A>G (p.Gln20Arg)
NM_000217.3(KCNA1):c.607C>T (p.His203Tyr)
NM_000217.3(KCNA1):c.61G>T (p.Asp21Tyr)
NM_000217.3(KCNA1):c.621CAC[1] (p.Thr209del)	rs1555085716
NM_000217.3(KCNA1):c.635A>G (p.Tyr212Cys)	rs2137673409
NM_000217.3(KCNA1):c.644A>G (p.Asn215Ser)
NM_000217.3(KCNA1):c.644A>T (p.Asn215Ile)	rs762016621
NM_000217.3(KCNA1):c.653C>G (p.Thr218Arg)	rs1280516411
NM_000217.3(KCNA1):c.657C>A (p.Asp219Glu)
NM_000217.3(KCNA1):c.670G>T (p.Val224Leu)	rs1947355480
NM_000217.3(KCNA1):c.702C>A (p.Phe234Leu)	rs755621934
NM_000217.3(KCNA1):c.70T>C (p.Tyr24His)	rs1224258529
NM_000217.3(KCNA1):c.724G>T (p.Ala242Ser)
NM_000217.3(KCNA1):c.727T>G (p.Cys243Gly)
NM_000217.3(KCNA1):c.740C>T (p.Thr247Met)
NM_000217.3(KCNA1):c.745T>C (p.Phe249Leu)
NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu)
NM_000217.3(KCNA1):c.755A>G (p.Asn252Ser)
NM_000217.3(KCNA1):c.757A>G (p.Ile253Val)	rs1947356316
NM_000217.3(KCNA1):c.757A>T (p.Ile253Phe)	rs1947356316
NM_000217.3(KCNA1):c.762dup (p.Asn255fs)
NM_000217.3(KCNA1):c.767T>A (p.Phe256Tyr)
NM_000217.3(KCNA1):c.767T>G (p.Phe256Cys)
NM_000217.3(KCNA1):c.793T>C (p.Tyr265His)
NM_000217.3(KCNA1):c.794A>G (p.Tyr265Cys)	rs1947356506
NM_000217.3(KCNA1):c.799A>G (p.Ile267Val)
NM_000217.3(KCNA1):c.827A>G (p.Gln276Arg)
NM_000217.3(KCNA1):c.846C>T (p.Gly282=)	rs971854626
NM_000217.3(KCNA1):c.868_872delinsTC (p.Ile290_Leu291delinsSer)	rs1555085756
NM_000217.3(KCNA1):c.872T>C (p.Leu291Pro)	rs1064796844
NM_000217.3(KCNA1):c.881_882delinsAT (p.Ile294Asn)
NM_000217.3(KCNA1):c.884G>A (p.Arg295His)	rs778463081
NM_000217.3(KCNA1):c.888G>C (p.Leu296Phe)	rs1315748120
NM_000217.3(KCNA1):c.894G>C (p.Arg298Ser)
NM_000217.3(KCNA1):c.911A>G (p.Lys304Arg)
NM_000217.3(KCNA1):c.917C>G (p.Ser306Cys)	rs1947357313
NM_000217.3(KCNA1):c.917C>T (p.Ser306Phe)
NM_000217.3(KCNA1):c.928A>G (p.Lys310Glu)	rs2137673741
NM_000217.3(KCNA1):c.931G>T (p.Gly311Cys)	rs1947357459
NM_000217.3(KCNA1):c.934C>A (p.Leu312Ile)	rs1947357501
NM_000217.3(KCNA1):c.953C>T (p.Thr318Ile)
NM_000217.3(KCNA1):c.964A>C (p.Ser322Arg)	rs1565433425
NM_000217.3(KCNA1):c.973G>A (p.Glu325Lys)
NM_000217.3(KCNA1):c.974A>G (p.Glu325Gly)
NM_000217.3(KCNA1):c.97C>T (p.His33Tyr)	rs1947351157
NM_000217.3(KCNA1):c.991T>A (p.Phe331Ile)	rs2137673787
NM_000217.3(KCNA1):c.992T>G (p.Phe331Cys)	rs1947357713

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