List of variants in gene CHRNE reported as likely benign for congenital myasthenic syndrome

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: 151

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.*6A>G	rs55806270	0.00487
NM_000080.4(CHRNE):c.1220-5G>A	rs188564977	0.00287
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)	rs151193377	0.00197
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=)	rs202051373	0.00043
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser)	rs375221757	0.00030
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=)	rs768977197	0.00017
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=)	rs372792059	0.00009
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr)	rs780592951	0.00009
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=)	rs751593666	0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)	rs376713095	0.00007
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=)	rs750097789	0.00006
NM_000080.4(CHRNE):c.1032+17C>T	rs372131102	0.00004
NM_000080.4(CHRNE):c.1220-6C>T	rs56251503	0.00004
NM_000080.4(CHRNE):c.1332G>C (p.Val444=)	rs376975376	0.00004
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=)	rs753202734	0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)	rs201030784	0.00004
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=)	rs377178938	0.00004
NM_000080.4(CHRNE):c.991C>A (p.Arg331=)	rs121909515	0.00003
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=)	rs1172630871	0.00002
NM_000080.4(CHRNE):c.1327-10C>T	rs779066933	0.00002
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=)	rs369916656	0.00002
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=)	rs950225592	0.00002
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=)	rs747880376	0.00001
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=)	rs1247241612	0.00001
NM_000080.4(CHRNE):c.1008C>T (p.His336=)	rs768479748	0.00001
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=)	rs778130828	0.00001
NM_000080.4(CHRNE):c.1032+8C>T	rs755463469	0.00001
NM_000080.4(CHRNE):c.1032+9G>A	rs752020505	0.00001
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=)	rs1047142793	0.00001
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=)	rs1449525013	0.00001
NM_000080.4(CHRNE):c.1220-4C>T	rs201553105	0.00001
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=)	rs1420851295	0.00001
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=)	rs750634265	0.00001
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=)	rs1349711476	0.00001
NM_000080.4(CHRNE):c.1290G>A (p.Val430=)	rs1416247967	0.00001
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=)	rs773970037	0.00001
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=)	rs1486674648	0.00001
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=)	rs1292101958	0.00001
NM_000080.4(CHRNE):c.1326+9G>A	rs1171676082	0.00001
NM_000080.4(CHRNE):c.1327-20C>T	rs1312286883	0.00001
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=)	rs1412855797	0.00001
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=)	rs1374818797	0.00001
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=)	rs1486567580	0.00001
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=)	rs1207444316	0.00001
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)	rs545473686	0.00001
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=)	rs373293781	0.00001
NM_000080.4(CHRNE):c.972C>T (p.Ile324=)	rs1405865454	0.00001
NM_000080.4(CHRNE):c.981C>T (p.Asn327=)	rs958190024	0.00001
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=)	rs1555546423
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=)	rs114454383
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu)	rs139922367
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=)
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=)	rs2151095114
NM_000080.4(CHRNE):c.1032+10G>A	rs2151095067
NM_000080.4(CHRNE):c.1032+10G>C
NM_000080.4(CHRNE):c.1032+11A>G
NM_000080.4(CHRNE):c.1032+12G>A
NM_000080.4(CHRNE):c.1032+12_1032+13insC
NM_000080.4(CHRNE):c.1032+13G>C
NM_000080.4(CHRNE):c.1032+14G>A
NM_000080.4(CHRNE):c.1032+14G>C
NM_000080.4(CHRNE):c.1032+18G>A
NM_000080.4(CHRNE):c.1032+20T>G
NM_000080.4(CHRNE):c.1032+7G>A
NM_000080.4(CHRNE):c.1032+9G>C
NM_000080.4(CHRNE):c.1032+9G>T	rs752020505
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=)	rs1226276974
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=)	rs372862723
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=)	rs372862723
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=)
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=)
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=)
NM_000080.4(CHRNE):c.1220-14G>A
NM_000080.4(CHRNE):c.1220-14_1220-3dup
NM_000080.4(CHRNE):c.1220-15T>C
NM_000080.4(CHRNE):c.1220-16G>A
NM_000080.4(CHRNE):c.1220-18C>T
NM_000080.4(CHRNE):c.1220-19C>A
NM_000080.4(CHRNE):c.1220-20C>A
NM_000080.4(CHRNE):c.1220-4C>A
NM_000080.4(CHRNE):c.1220-4C>G	rs201553105
NM_000080.4(CHRNE):c.1220-5G>T
NM_000080.4(CHRNE):c.1220-6C>G
NM_000080.4(CHRNE):c.1220-7C>G
NM_000080.4(CHRNE):c.1220-9C>G	rs748607118
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=)	rs2151094069
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=)
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=)	rs1969839608
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=)
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)	rs370770111
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=)	rs370770111
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=)	rs966410323
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=)
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=)	rs2151094028
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=)
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=)
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=)	rs994146259
NM_000080.4(CHRNE):c.1281G>A (p.Val427=)	rs2151093968
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=)
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=)
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=)	rs1292101958
NM_000080.4(CHRNE):c.1326+13_1326+32del	rs780277856
NM_000080.4(CHRNE):c.1326+14C>T
NM_000080.4(CHRNE):c.1326+18G>A
NM_000080.4(CHRNE):c.1326+20C>A
NM_000080.4(CHRNE):c.1326+7C>T
NM_000080.4(CHRNE):c.1327-14C>G
NM_000080.4(CHRNE):c.1327-14C>T
NM_000080.4(CHRNE):c.1327-17_1327-16del	rs774197166
NM_000080.4(CHRNE):c.1327-18G>C
NM_000080.4(CHRNE):c.1327-4C>G	rs2151093603
NM_000080.4(CHRNE):c.1327-5C>A	rs2151093607
NM_000080.4(CHRNE):c.1327-5C>T	rs2151093607
NM_000080.4(CHRNE):c.1327-6C>T
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=)
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=)	rs753202734
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=)	rs753202734
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=)
NM_000080.4(CHRNE):c.1344G>A (p.Val448=)	rs143098859
NM_000080.4(CHRNE):c.1344G>C (p.Val448=)	rs143098859
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=)
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=)	rs1969823137
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=)
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=)	rs570378547
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)	rs139171143
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	rs139171143
NM_000080.4(CHRNE):c.1404G>C (p.Val468=)
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=)	rs2151093451
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=)	rs763943642
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)	rs2151093399
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=)	rs950225592
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)
NM_000080.4(CHRNE):c.969C>A (p.Val323=)	rs532669011
NM_000080.4(CHRNE):c.969C>T (p.Val323=)	rs532669011
NM_000080.4(CHRNE):c.975G>C (p.Val325=)	rs1969881791
NM_000080.4(CHRNE):c.978C>T (p.Leu326=)
NM_000080.4(CHRNE):c.984G>A (p.Val328=)
NM_000080.4(CHRNE):c.984G>T (p.Val328=)	rs1969880796
NM_000080.4(CHRNE):c.996G>A (p.Thr332=)	rs772819662
NM_000080.4(CHRNE):c.996G>C (p.Thr332=)
NM_000080.4(CHRNE):c.996G>T (p.Thr332=)	rs772819662
NM_000080.4(CHRNE):c.999C>T (p.Pro333=)

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