List of variants in gene KCNJ8 studied for Brugada syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 129

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HGVS	dbSNP	gnomAD frequency
NM_004982.4(KCNJ8):c.291C>G (p.Ala97=)	rs34524779	0.01829
NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)	rs34811413	0.01825
NM_004982.4(KCNJ8):c.855G>A (p.Leu285=)	rs34093632	0.01061
NM_004982.4(KCNJ8):c.793T>C (p.Leu265=)	rs16924297	0.00638
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)	rs72554071	0.00121
NM_004982.4(KCNJ8):c.897G>A (p.Val299=)	rs139329310	0.00088
NM_004982.4(KCNJ8):c.507C>T (p.Ile169=)	rs139304559	0.00051
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)	rs147316959	0.00032
NM_004982.4(KCNJ8):c.111C>T (p.Ile37=)	rs112604741	0.00021
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly)	rs117808169	0.00019
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)	rs138391404	0.00018
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His)	rs149127157	0.00010
NM_004982.4(KCNJ8):c.138G>T (p.Ala46=)	rs568067955	0.00007
NM_004982.4(KCNJ8):c.144G>A (p.Lys48=)	rs368274950	0.00007
NM_004982.4(KCNJ8):c.600C>T (p.Ala200=)	rs755870233	0.00006
NM_004982.4(KCNJ8):c.870G>A (p.Leu290=)	rs549973587	0.00005
NM_004982.4(KCNJ8):c.303C>T (p.Ile101=)	rs758633200	0.00004
NM_004982.4(KCNJ8):c.807C>T (p.His269=)	rs745683723	0.00004
NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=)	rs772569559	0.00003
NM_004982.4(KCNJ8):c.588T>C (p.His196=)	rs373707000	0.00003
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln)	rs142014286	0.00002
NM_004982.4(KCNJ8):c.189C>T (p.Thr63=)	rs375355931	0.00002
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile)	rs770087869	0.00002
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys)	rs781083385	0.00002
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp)	rs556299317	0.00001
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg)	rs752063865	0.00001
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser)	rs368674776	0.00001
NM_004982.4(KCNJ8):c.12A>G (p.Arg4=)	rs775249538	0.00001
NM_004982.4(KCNJ8):c.225C>T (p.Ile75=)	rs1940806660	0.00001
NM_004982.4(KCNJ8):c.243C>T (p.Leu81=)	rs771727850	0.00001
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala)	rs761526890	0.00001
NM_004982.4(KCNJ8):c.601G>A (p.Val201Ile)	rs750317966	0.00001
NM_004982.4(KCNJ8):c.636G>A (p.Val212=)	rs1203539861	0.00001
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys)	rs763650307	0.00001
NM_004982.4(KCNJ8):c.701C>T (p.Thr234Ile)	rs369660507	0.00001
NM_004982.4(KCNJ8):c.720G>A (p.Val240=)	rs876661349	0.00001
NM_004982.4(KCNJ8):c.76C>T (p.Arg26Cys)	rs1341531219	0.00001
NM_004982.4(KCNJ8):c.786G>A (p.Val262=)	rs768927826	0.00001
NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys)	rs764215606	0.00001
NC_000012.12:g.21765761T>C
NC_000012.12:g.21765802C>A
NC_000012.12:g.21765806T>C
NC_000012.12:g.21765840C>T
NC_000012.12:g.21766002TTC[1]
NC_000012.12:g.21766013T>C
NC_000012.12:g.21766057A>G
NC_000012.12:g.21766209G>A
NC_000012.12:g.21766263T>C
NC_000012.12:g.21766281C>T
NC_000012.12:g.21766292G>A
NC_000012.12:g.21766528G>A
NC_000012.12:g.21766555A>G
NC_000012.12:g.21773274_21773288del
NC_000012.12:g.21773321C>G
NC_000012.12:g.21773450A>G
NC_000012.12:g.21773586C>A
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu)	rs747622709
NM_004982.4(KCNJ8):c.1066C>A (p.Arg356=)	rs778531267
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)
NM_004982.4(KCNJ8):c.1070A>G (p.Glu357Gly)	rs1591883003
NM_004982.4(KCNJ8):c.1104C>T (p.Thr368=)
NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=)
NM_004982.4(KCNJ8):c.112G>T (p.Ala38Ser)	rs1555172510
NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=)
NM_004982.4(KCNJ8):c.1148G>A (p.Arg383His)	rs764730358
NM_004982.4(KCNJ8):c.1156A>C (p.Met386Leu)
NM_004982.4(KCNJ8):c.1176G>A (p.Met392Ile)	rs1940604697
NM_004982.4(KCNJ8):c.1179_1196dup (p.Ile398_Ser403dup)	rs2137047060
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser)	rs730880120
NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser)
NM_004982.4(KCNJ8):c.1218G>A (p.Met406Ile)	rs1591882812
NM_004982.4(KCNJ8):c.1232A>C (p.Gln411Pro)	rs1940602689
NM_004982.4(KCNJ8):c.1236T>G (p.Phe412Leu)
NM_004982.4(KCNJ8):c.1243_1244del (p.Pro415fs)
NM_004982.4(KCNJ8):c.1257A>G (p.Gln419=)	rs751945188
NM_004982.4(KCNJ8):c.132C>T (p.Asn44=)
NM_004982.4(KCNJ8):c.137C>T (p.Ala46Val)	rs1565662161
NM_004982.4(KCNJ8):c.18T>C (p.Ser6=)
NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe)
NM_004982.4(KCNJ8):c.198C>T (p.Asp66=)	rs2137051977
NM_004982.4(KCNJ8):c.265A>G (p.Ile89Val)
NM_004982.4(KCNJ8):c.290C>A (p.Ala97Asp)	rs1940805358
NM_004982.4(KCNJ8):c.2dup (p.Met1fs)
NM_004982.4(KCNJ8):c.306T>C (p.Tyr102=)	rs752928813
NM_004982.4(KCNJ8):c.328A>C (p.Met110Leu)
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser)	rs770087869
NM_004982.4(KCNJ8):c.36T>C (p.Tyr12=)	rs1482460942
NM_004982.4(KCNJ8):c.374+8T>C
NM_004982.4(KCNJ8):c.375-11A>C
NM_004982.4(KCNJ8):c.381C>G (p.Phe127Leu)
NM_004982.4(KCNJ8):c.387T>C (p.Ser129=)
NM_004982.4(KCNJ8):c.45G>A (p.Ala15=)	rs1162681542
NM_004982.4(KCNJ8):c.471G>A (p.Thr157=)	rs143319002
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)	rs143319002
NM_004982.4(KCNJ8):c.483C>T (p.Leu161=)
NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr)
NM_004982.4(KCNJ8):c.583C>T (p.Arg195Cys)	rs1940624368
NM_004982.4(KCNJ8):c.584G>A (p.Arg195His)
NM_004982.4(KCNJ8):c.586C>T (p.His196Tyr)
NM_004982.4(KCNJ8):c.591T>A (p.Ala197=)	rs145490575
NM_004982.4(KCNJ8):c.631C>A (p.Arg211=)
NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala)
NM_004982.4(KCNJ8):c.642C>T (p.Asp214=)	rs2137047449
NM_004982.4(KCNJ8):c.648G>A (p.Arg216=)	rs2137047441
NM_004982.4(KCNJ8):c.66G>A (p.Leu22=)
NM_004982.4(KCNJ8):c.66G>T (p.Leu22=)
NM_004982.4(KCNJ8):c.693G>A (p.Lys231=)
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala)	rs146747000
NM_004982.4(KCNJ8):c.71_79dup (p.Lys24_Arg26dup)	rs1447944616
NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu)
NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr)
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val)	rs1235054283
NM_004982.4(KCNJ8):c.762C>A (p.Ile254=)
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)
NM_004982.4(KCNJ8):c.768C>T (p.Ser256=)
NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu)	rs1940616222
NM_004982.4(KCNJ8):c.801C>T (p.Ile267=)
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
NM_004982.4(KCNJ8):c.819G>A (p.Lys273=)	rs1940614320
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro)	rs768851540
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser)	rs749697322
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys)	rs749697322
NM_004982.4(KCNJ8):c.914T>A (p.Ile305Asn)
NM_004982.4(KCNJ8):c.94C>T (p.Pro32Ser)	rs2137052056
NM_004982.4(KCNJ8):c.953T>G (p.Ile318Ser)
NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu)
NM_004982.4(KCNJ8):c.969C>A (p.Arg323=)	rs1311193970
NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr)	rs1940609307

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