ClinVar Miner

List of variants reported as uncertain significance for congenital myasthenic syndrome 20 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala) rs75427357 0.00026
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys) rs1280034815 0.00020
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) rs773393717 0.00014
NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile) rs754211137 0.00009
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) rs199864231 0.00009
NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp) rs376624433 0.00007
NM_021815.5(SLC5A7):c.466A>T (p.Ile156Phe) rs763294235 0.00005
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln) rs757121838 0.00004
NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe) rs754554826 0.00004
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr) rs200286711 0.00004
NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr) rs375397889 0.00004
NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter) rs751468033 0.00003
NM_021815.5(SLC5A7):c.1285G>A (p.Gly429Arg) rs764287242 0.00003
NM_021815.5(SLC5A7):c.1655C>A (p.Thr552Asn) rs748431280 0.00003
NM_021815.5(SLC5A7):c.463G>A (p.Val155Met) rs775903161 0.00003
NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys) rs1191969326 0.00003
NM_021815.5(SLC5A7):c.1113+6A>G rs766515861 0.00002
NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile) rs763020957 0.00002
NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile) rs759833850 0.00002
NM_021815.5(SLC5A7):c.1487A>G (p.Tyr496Cys) rs1001889637 0.00002
NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe) rs780371731 0.00002
NM_021815.5(SLC5A7):c.472G>A (p.Asp158Asn) rs768776054 0.00002
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile) rs541031936 0.00002
NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu) rs769383404 0.00001
NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr) rs1225811300 0.00001
NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly) rs771965968 0.00001
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu) rs776949424 0.00001
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu) rs765428136 0.00001
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly) rs750242187 0.00001
NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys) rs760447400 0.00001
NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala) rs770628227 0.00001
NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu) rs770003632 0.00001
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln) rs1677318394 0.00001
NM_021815.5(SLC5A7):c.13G>A (p.Val5Met) rs759997671 0.00001
NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val) rs1248009607 0.00001
NM_021815.5(SLC5A7):c.1444C>T (p.Leu482Phe) rs370223910 0.00001
NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe) rs532174786 0.00001
NM_021815.5(SLC5A7):c.1484C>G (p.Ser495Cys) rs1446927168 0.00001
NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile) rs140863834 0.00001
NM_021815.5(SLC5A7):c.1613A>G (p.Lys538Arg) rs1288760672 0.00001
NM_021815.5(SLC5A7):c.1628C>A (p.Ala543Glu) rs751068657 0.00001
NM_021815.5(SLC5A7):c.1642C>T (p.Arg548Ter) rs199636877 0.00001
NM_021815.5(SLC5A7):c.1672dup (p.Thr558fs) rs748711877 0.00001
NM_021815.5(SLC5A7):c.1718C>T (p.Ser573Phe) rs374245840 0.00001
NM_021815.5(SLC5A7):c.1722G>T (p.Gly574=) rs762662680 0.00001
NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val) rs751087167 0.00001
NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His) rs748862220 0.00001
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe) rs1172822464 0.00001
NM_021815.5(SLC5A7):c.319C>T (p.Arg107Cys) rs1265189648 0.00001
NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val) rs911790588 0.00001
NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val) rs764663527 0.00001
NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr) rs1057353436 0.00001
NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys) rs757211775 0.00001
NM_021815.5(SLC5A7):c.382G>A (p.Gly128Arg) rs1222306029 0.00001
NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe) rs748901270 0.00001
NM_021815.5(SLC5A7):c.534G>A (p.Val178=) rs1573601177 0.00001
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn) rs763744412 0.00001
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val) rs1351029450 0.00001
NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala) rs1035258430 0.00001
NM_021815.5(SLC5A7):c.698A>G (p.Asp233Gly) rs1677927626 0.00001
NM_021815.5(SLC5A7):c.704C>G (p.Ser235Cys) rs755576066 0.00001
NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe) rs778161682 0.00001
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu) rs1370287710 0.00001
NC_000002.11:g.(?_108604592)_(108627337_?)dup
NC_000002.11:g.(?_108604612)_(108604809_?)del
NC_000002.11:g.(?_108604612)_(108609603_?)del
NC_000002.11:g.(?_108604612)_(108627317_?)del
NC_000002.11:g.(?_108604612)_(108627317_?)dup
NC_000002.12:g.(?_107988146)_(108010871_?)dup
NC_000002.12:g.(?_107988146)_(108963283_?)del
NC_000002.12:g.(?_107988146)_(108963283_?)dup
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys) rs2104379258
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr) rs140481686
NM_021815.5(SLC5A7):c.1046A>G (p.Asp349Gly) rs2104379374
NM_021815.5(SLC5A7):c.1072A>T (p.Met358Leu) rs762453964
NM_021815.5(SLC5A7):c.1096C>A (p.Leu366Ile) rs2104379560
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp) rs1206415590
NM_021815.5(SLC5A7):c.1114-10T>C
NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp)
NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys) rs935822553
NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)
NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys)
NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile) rs2104382635
NM_021815.5(SLC5A7):c.113G>A (p.Arg38His) rs1054170676
NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)
NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu) rs1678267305
NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)
NM_021815.5(SLC5A7):c.1184T>C (p.Met395Thr) rs556748289
NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met)
NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser) rs1558872383
NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met)
NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr) rs1677323077
NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)
NM_021815.5(SLC5A7):c.1262T>C (p.Leu421Pro) rs2104383027
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro) rs2104383051
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys) rs2104383095
NM_021815.5(SLC5A7):c.1300G>A (p.Gly434Arg) rs2104383123
NM_021815.5(SLC5A7):c.1306G>T (p.Val436Leu) rs148535388
NM_021815.5(SLC5A7):c.1316A>T (p.Tyr439Phe) rs2104383202
NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala) rs1446985615
NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His) rs1678278823
NM_021815.5(SLC5A7):c.1376T>C (p.Leu459Ser) rs145310206
NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)
NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser) rs1558872670
NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)
NM_021815.5(SLC5A7):c.1405G>A (p.Asp469Asn) rs1678280904
NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser) rs1678281220
NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)
NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg)
NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys) rs1323329132
NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)
NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)
NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys) rs1274120636
NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)
NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)
NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile)
NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)
NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)
NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)
NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met)
NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)
NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly)
NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His)
NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)
NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile) rs199693962
NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)
NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala)
NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala) rs1558872967
NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly) rs776499560
NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)
NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)
NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)
NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter) rs1678292762
NM_021815.5(SLC5A7):c.1601A>G (p.Asn534Ser) rs1678293099
NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser)
NM_021815.5(SLC5A7):c.1610T>C (p.Ile537Thr) rs1157492588
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser) rs1558873189
NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser)
NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser) rs747026995
NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)
NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp)
NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly) rs776388070
NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val) rs1553460067
NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala) rs202227094
NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr) rs1573619033
NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)
NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs)
NM_021815.5(SLC5A7):c.1721G>T (p.Gly574Val) rs1222691698
NM_021815.5(SLC5A7):c.1726G>A (p.Glu576Lys) rs763725923
NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)
NM_021815.5(SLC5A7):c.177A>G (p.Thr59=) rs1553457528
NM_021815.5(SLC5A7):c.178+4C>G
NM_021815.5(SLC5A7):c.178+6T>C rs1553457530
NM_021815.5(SLC5A7):c.179-2A>G rs2104340311
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu) rs886039765
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg) rs753442687
NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)
NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu) rs1573592052
NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val) rs1177599655
NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val) rs1558859918
NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)
NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr) rs543338077
NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe) rs60964124
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile) rs1172822464
NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)
NM_021815.5(SLC5A7):c.292+1G>A rs1677478183
NM_021815.5(SLC5A7):c.292+5G>C
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) rs886039766
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs) rs2104342591
NM_021815.5(SLC5A7):c.376A>G (p.Met126Val) rs371931981
NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr)
NM_021815.5(SLC5A7):c.378G>A (p.Met126Ile) rs1336840043
NM_021815.5(SLC5A7):c.37G>A (p.Val13Met) rs1677319788
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
NM_021815.5(SLC5A7):c.406A>G (p.Met136Val)
NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys) rs1558860651
NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr) rs1558860658
NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu) rs1677517934
NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu) rs1558857378
NM_021815.5(SLC5A7):c.448+6G>A
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr) rs1677727536
NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)
NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val)
NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)
NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val) rs143876748
NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)
NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe)
NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)
NM_021815.5(SLC5A7):c.517A>T (p.Thr173Ser) rs2104354270
NM_021815.5(SLC5A7):c.518C>A (p.Thr173Asn) rs746514670
NM_021815.5(SLC5A7):c.518C>T (p.Thr173Ile) rs746514670
NM_021815.5(SLC5A7):c.529C>A (p.Leu177Met) rs2104354340
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
NM_021815.5(SLC5A7):c.568G>C (p.Val190Leu) rs541031936
NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg)
NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val)
NM_021815.5(SLC5A7):c.583A>G (p.Ile195Val) rs776668635
NM_021815.5(SLC5A7):c.598-12T>C
NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg)
NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)
NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile)
NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu)
NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr) rs763744412
NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile)
NM_021815.5(SLC5A7):c.656C>T (p.Ala219Val) rs2104364447
NM_021815.5(SLC5A7):c.663T>A (p.His221Gln) rs2104364491
NM_021815.5(SLC5A7):c.679C>T (p.Pro227Ser) rs1035258430
NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg) rs1677927136
NM_021815.5(SLC5A7):c.703T>G (p.Ser235Ala) rs1677928025
NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg)
NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser)
NM_021815.5(SLC5A7):c.742-3C>T rs995989817
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val) rs2104332660
NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)
NM_021815.5(SLC5A7):c.779G>T (p.Arg260Met) rs1678107773
NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys) rs1259002559
NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)
NM_021815.5(SLC5A7):c.800C>T (p.Ala267Val) rs761583647
NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys)
NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala) rs772699592
NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter) rs1677321281
NM_021815.5(SLC5A7):c.827T>C (p.Leu276Pro) rs2104373588
NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)
NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr) rs2104373775
NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val) rs1553459529
NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val)
NM_021815.5(SLC5A7):c.895+1G>C rs1678115852
NM_021815.5(SLC5A7):c.895+4A>G
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln) rs1307429820
NM_021815.5(SLC5A7):c.949G>T (p.Asp317Tyr) rs1678201892
NM_021815.5(SLC5A7):c.952A>G (p.Met318Val) rs1678202004
NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)
NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)
Single allele

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