ClinVar Miner

List of variants studied for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
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HGVS dbSNP
CHAT, 2-BP INS, 523CC
NC_000010.10:g.(?_50821083)_(50874150_?)dup
NC_000010.10:g.(?_50822226)_(50873102_?)dup
NC_000010.11:g.(?_49614170)_(49665066_?)del
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu) rs8187730
NM_020549.4(CHAT):c.1009G>C (p.Val337Leu) rs1462079971
NM_020549.4(CHAT):c.1032C>T (p.Asp344=) rs145203976
NM_020549.4(CHAT):c.1033G>A (p.Glu345Lys)
NM_020549.4(CHAT):c.1038T>C (p.Arg346=) rs367961073
NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) rs769234940
NM_020549.4(CHAT):c.1062G>A (p.Thr354=) rs529337162
NM_020549.4(CHAT):c.1068C>T (p.Asp356=) rs748193892
NM_020549.4(CHAT):c.1069G>A (p.Gly357Arg) rs61731735
NM_020549.4(CHAT):c.1086C>T (p.Ala362=) rs374870408
NM_020549.4(CHAT):c.1087G>A (p.Glu363Lys) rs75262191
NM_020549.4(CHAT):c.1098G>A (p.Thr366=) rs780860401
NM_020549.4(CHAT):c.1111+7C>T rs767946637
NM_020549.4(CHAT):c.1111+8G>A rs142454032
NM_020549.4(CHAT):c.1122C>T (p.Asn374=) rs61115650
NM_020549.4(CHAT):c.1123C>T (p.Arg375Trp) rs141794970
NM_020549.4(CHAT):c.1124G>A (p.Arg375Gln) rs201616704
NM_020549.4(CHAT):c.1131G>A (p.Ser377=) rs115126024
NM_020549.4(CHAT):c.1135G>C (p.Asp379His) rs115212829
NM_020549.4(CHAT):c.1142T>C (p.Ile381Thr) rs372758559
NM_020549.4(CHAT):c.1144G>C (p.Glu382Gln)
NM_020549.4(CHAT):c.1148G>A (p.Arg383His)
NM_020549.4(CHAT):c.1173C>T (p.Asp391=) rs141690626
NM_020549.4(CHAT):c.1174G>A (p.Ala392Thr) rs115877658
NM_020549.4(CHAT):c.1197C>T (p.Ser399=) rs554276268
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1211C>T (p.Ala404Val) rs192592698
NM_020549.4(CHAT):c.1230C>T (p.Gly410=) rs779724822
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys) rs121912822
NM_020549.4(CHAT):c.1275C>A (p.Ser425=) rs767778694
NM_020549.4(CHAT):c.1281+7C>T rs776458664
NM_020549.4(CHAT):c.1282-6T>C rs771457200
NM_020549.4(CHAT):c.1291G>T (p.Gly431Cys) rs1554807467
NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys) rs121912816
NM_020549.4(CHAT):c.1345G>A (p.Val449Ile) rs757733319
NM_020549.4(CHAT):c.1371G>A (p.Leu457=) rs1274962675
NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) rs76014951
NM_020549.4(CHAT):c.1381= (p.Met461=) rs4838544
NM_020549.4(CHAT):c.1381A>G (p.Met461Val) rs4838544
NM_020549.4(CHAT):c.1382T>C (p.Met461Thr) rs918273981
NM_020549.4(CHAT):c.1385C>T (p.Thr462Met) rs538478136
NM_020549.4(CHAT):c.1391G>A (p.Ser464Asn) rs148525631
NM_020549.4(CHAT):c.1401G>A (p.Lys467=) rs1305182651
NM_020549.4(CHAT):c.1408C>A (p.Arg470=) rs142889639
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1420G>A (p.Val474Ile) rs371719364
NM_020549.4(CHAT):c.1423A>T (p.Ser475Cys) rs765549293
NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.4(CHAT):c.1450C>T (p.Arg484Trp)
NM_020549.4(CHAT):c.1451G>A (p.Arg484Gln) rs771901229
NM_020549.4(CHAT):c.1460G>T (p.Cys487Phe) rs201293521
NM_020549.4(CHAT):c.1464C>A (p.Ser488=) rs1590611293
NM_020549.4(CHAT):c.1466C>T (p.Pro489Leu) rs764921945
NM_020549.4(CHAT):c.1485A>G (p.Leu495=) rs151031033
NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu) rs121912821
NM_020549.4(CHAT):c.1494G>A (p.Ser498=) rs139722660
NM_020549.4(CHAT):c.1511+5G>A rs371888779
NM_020549.4(CHAT):c.1511G>A (p.Arg504Gln) rs200335347
NM_020549.4(CHAT):c.1516G>T (p.Val506Leu) rs121912817
NM_020549.4(CHAT):c.1530C>T (p.Asp510=) rs558298529
NM_020549.4(CHAT):c.1550A>C (p.Asp517Ala) rs1368752304
NM_020549.4(CHAT):c.156C>T (p.Ala52=) rs1286222980
NM_020549.4(CHAT):c.1635-3C>G
NM_020549.4(CHAT):c.1641T>C (p.His547=) rs8178992
NM_020549.4(CHAT):c.1642C>T (p.Arg548Ter) rs369251527
NM_020549.4(CHAT):c.1651G>C (p.Val551Leu) rs1564493573
NM_020549.4(CHAT):c.1652T>G (p.Val551Gly) rs1554808432
NM_020549.4(CHAT):c.1654C>T (p.Pro552Ser) rs147079245
NM_020549.4(CHAT):c.1661A>G (p.Tyr554Cys)
NM_020549.4(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.4(CHAT):c.1668C>T (p.Ser556=) rs55702495
NM_020549.4(CHAT):c.1669G>A (p.Ala557Thr) rs372760913
NM_020549.4(CHAT):c.1674C>T (p.Ser558=) rs7073028
NM_020549.4(CHAT):c.1679G>A (p.Arg560His) rs121912819
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.1700T>C (p.Val567Ala)
NM_020549.4(CHAT):c.1735G>A (p.Ala579Thr)
NM_020549.4(CHAT):c.174C>A (p.Ser58Arg) rs572002174
NM_020549.4(CHAT):c.1769C>T (p.Ala590Val) rs1313042835
NM_020549.4(CHAT):c.176C>T (p.Pro59Leu) rs766916844
NM_020549.4(CHAT):c.1771G>A (p.Val591Met) rs201485243
NM_020549.4(CHAT):c.1801A>G (p.Lys601Glu)
NM_020549.4(CHAT):c.1814G>A (p.Arg605His) rs199926163
NM_020549.4(CHAT):c.181C>A (p.Pro61Thr) rs923971969
NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) rs773228076
NM_020549.4(CHAT):c.1839+3G>A
NM_020549.4(CHAT):c.1840-9A>G rs1279554995
NM_020549.4(CHAT):c.1843A>G (p.Ile615Val) rs759151717
NM_020549.4(CHAT):c.1880T>C (p.Leu627Pro)
NM_020549.4(CHAT):c.1883G>A (p.Arg628Gln) rs114545628
NM_020549.4(CHAT):c.1894C>T (p.Arg632Trp) rs141127966
NM_020549.4(CHAT):c.1895G>A (p.Arg632Gln) rs758448736
NM_020549.4(CHAT):c.1918G>A (p.Glu640Lys)
NM_020549.4(CHAT):c.1935A>C (p.Glu645Asp) rs775011277
NM_020549.4(CHAT):c.1955G>A (p.Arg652Gln) rs116628504
NM_020549.4(CHAT):c.1963C>T (p.Leu655Phe)
NM_020549.4(CHAT):c.1977+4C>T rs200116201
NM_020549.4(CHAT):c.2004C>G (p.Cys668Trp) rs1156904329
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.206C>A (p.Pro69His) rs1283840204
NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) rs79414242
NM_020549.4(CHAT):c.2178G>A (p.Pro726=) rs77144546
NM_020549.4(CHAT):c.2180C>A (p.Pro727His) rs1554809701
NM_020549.4(CHAT):c.2183C>T (p.Thr728Ile) rs74334349
NM_020549.4(CHAT):c.220A>G (p.Thr74Ala) rs1554801418
NM_020549.4(CHAT):c.2219C>T (p.Thr740Met) rs755783618
NM_020549.4(CHAT):c.2222G>A (p.Arg741Lys) rs114719193
NM_020549.4(CHAT):c.222C>T (p.Thr74=) rs767600029
NM_020549.4(CHAT):c.252A>C (p.Ala84=) rs112079336
NM_020549.4(CHAT):c.254C>G (p.Ala85Gly) rs1564469074
NM_020549.4(CHAT):c.258G>A (p.Ser86=) rs778636468
NM_020549.4(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.4(CHAT):c.284C>A (p.Ala95Glu) rs977117524
NM_020549.4(CHAT):c.287-431G>A rs1880676
NM_020549.4(CHAT):c.287-4C>G rs779267880
NM_020549.4(CHAT):c.314G>C (p.Gly105Ala) rs149711635
NM_020549.4(CHAT):c.326C>T (p.Thr109Met) rs542610160
NM_020549.4(CHAT):c.327G>A (p.Thr109=) rs79914771
NM_020549.4(CHAT):c.349C>T (p.Arg117Cys) rs200361897
NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) rs3810950
NM_020549.4(CHAT):c.374G>A (p.Ser125Asn)
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.413C>A (p.Pro138Gln) rs557059182
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.476_477delinsAG (p.Phe159Ter)
NM_020549.4(CHAT):c.484A>G (p.Ser162Gly)
NM_020549.4(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020549.4(CHAT):c.576C>T (p.Asn192=) rs150236872
NM_020549.4(CHAT):c.580-5G>A rs763339825
NM_020549.4(CHAT):c.580-9C>G rs371756448
NM_020549.4(CHAT):c.605T>G (p.Met202Arg) rs376808313
NM_020549.4(CHAT):c.619C>T (p.Arg207Cys) rs760936252
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.629T>C (p.Leu210Pro) rs121912820
NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) rs121912815
NM_020549.4(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020549.4(CHAT):c.651C>T (p.Ala217=) rs575515952
NM_020549.4(CHAT):c.665G>A (p.Arg222Gln)
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020549.4(CHAT):c.669del (p.Gln223fs) rs1554802808
NM_020549.4(CHAT):c.693G>C (p.Gln231His)
NM_020549.4(CHAT):c.698+7C>T rs1590563362
NM_020549.4(CHAT):c.699-5T>C rs1321871575
NM_020549.4(CHAT):c.711C>G (p.Ser237Arg) rs78925077
NM_020549.4(CHAT):c.719C>T (p.Ser240Phe)
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.745C>G (p.Leu249Val) rs115510708
NM_020549.4(CHAT):c.754C>T (p.His252Tyr) rs376994468
NM_020549.4(CHAT):c.769G>A (p.Asp257Asn) rs1564475567
NM_020549.4(CHAT):c.789G>A (p.Leu263=) rs114090981
NM_020549.4(CHAT):c.794G>A (p.Gly265Glu)
NM_020549.4(CHAT):c.834C>T (p.Ser278=) rs775502083
NM_020549.4(CHAT):c.843G>C (p.Arg281=) rs768892260
NM_020549.4(CHAT):c.846C>T (p.Leu282=) rs1213463622
NM_020549.4(CHAT):c.858C>T (p.Thr286=) rs200423662
NM_020549.4(CHAT):c.85A>C (p.Arg29=) rs772025588
NM_020549.4(CHAT):c.861G>A (p.Gln287=) rs1590572872
NM_020549.4(CHAT):c.867G>A (p.Thr289=) rs574542737
NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) rs868749
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064
NM_020549.4(CHAT):c.909C>T (p.His303=) rs76570508
NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_020549.4(CHAT):c.920C>G (p.Ala307Gly) rs748250869
NM_020549.4(CHAT):c.929A>G (p.Asn310Ser) rs149976821
NM_020549.4(CHAT):c.968G>A (p.Arg323His) rs200176236
NM_020549.4(CHAT):c.973A>G (p.Ser325Gly)
NM_020549.4(CHAT):c.989T>C (p.Phe330Ser) rs1554804021
NM_020549.5(CHAT):c.1007T>C rs121912823
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys)
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu)
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr)
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro)
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln)
NM_020549.5(CHAT):c.117G>C (p.Ser39=)
NM_020549.5(CHAT):c.1186G>A (p.Val396Met)
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp)
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn)
NM_020549.5(CHAT):c.1281+8G>A
NM_020549.5(CHAT):c.1282-3C>T
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala)
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser)
NM_020549.5(CHAT):c.1320C>T (p.Cys440=)
NM_020549.5(CHAT):c.1338T>C (p.Asp446=)
NM_020549.5(CHAT):c.1344C>T (p.Ile448=)
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
NM_020549.5(CHAT):c.1383-1G>A
NM_020549.5(CHAT):c.1386G>A (p.Thr462=)
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln)
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro)
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu)
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg)
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val)
NM_020549.5(CHAT):c.1481A>C (p.His494Pro)
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro)
NM_020549.5(CHAT):c.1512-10T>C
NM_020549.5(CHAT):c.1512-5C>A
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg)
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val)
NM_020549.5(CHAT):c.1635-5C>T
NM_020549.5(CHAT):c.1671G>A (p.Ala557=)
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)
NM_020549.5(CHAT):c.1716G>A (p.Ser572=)
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val)
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile)
NM_020549.5(CHAT):c.1728G>A (p.Glu576=)
NM_020549.5(CHAT):c.1746A>G (p.Arg582=)
NM_020549.5(CHAT):c.1750G>A (p.Val584Met)
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val)
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr)
NM_020549.5(CHAT):c.1839+10G>A
NM_020549.5(CHAT):c.1839+9C>T
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val)
NM_020549.5(CHAT):c.18G>A (p.Ala6=)
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter)
NM_020549.5(CHAT):c.1971T>C (p.Thr657=)
NM_020549.5(CHAT):c.2049C>T (p.Asn683=)
NM_020549.5(CHAT):c.208del (p.Leu70fs)
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) rs750942168
NM_020549.5(CHAT):c.2112T>C (p.Ser704=)
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg)
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr)
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg)
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp)
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile)
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile)
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu)
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser)
NM_020549.5(CHAT):c.258G>C (p.Ser86=)
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys)
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln)
NM_020549.5(CHAT):c.276G>A (p.Pro92=)
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly)
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser)
NM_020549.5(CHAT):c.287-10T>C
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu)
NM_020549.5(CHAT):c.388-4C>T
NM_020549.5(CHAT):c.388-6T>C
NM_020549.5(CHAT):c.393G>T (p.Leu131=)
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser)
NM_020549.5(CHAT):c.405C>T (p.Pro135=)
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu)
NM_020549.5(CHAT):c.435G>A (p.Thr145=)
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)
NM_020549.5(CHAT):c.45del (p.Lys16fs)
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr)
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)
NM_020549.5(CHAT):c.474G>A (p.Gln158=)
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr)
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn)
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser)
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln)
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.618C>T (p.Asn206=)
NM_020549.5(CHAT):c.651C>G (p.Ala217=)
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile)
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser)
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys)
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser)
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys)
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr)
NM_020549.5(CHAT):c.910G>A (p.Val304Ile)
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)
NM_020549.5(CHAT):c.916G>C (p.Val306Leu)
NM_020549.5(CHAT):c.92T>A (p.Val31Glu)
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp)
NM_020549.5(CHAT):c.951del (p.Val318fs)
NM_020549.5(CHAT):c.963C>T (p.Phe321=)
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys)
NM_020984.3(CHAT):c.-10C>A rs917815714
NM_020984.3(CHAT):c.-39C>T rs776042082
NM_020984.3(CHAT):c.-5G>A
NM_020984.3(CHAT):c.-68-2075G>C
NM_020984.3(CHAT):c.-68-2081A>C
NM_020984.3(CHAT):c.-68-2132C>T rs923971969
NM_020984.3(CHAT):c.-68-2167dup
NM_020984.3(CHAT):c.-68-2194G>T rs776411377
NM_020984.3(CHAT):c.-68-2220G>C rs1399903985
NM_020984.3(CHAT):c.-68-2289G>A rs1444707075

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