ClinVar Miner

List of variants reported as uncertain significance for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11

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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys) rs150207592 0.00008
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.690+4G>A rs201803329 0.00005
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys) rs772054419 0.00005
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp) rs145507075 0.00004
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) rs769989407 0.00004
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser) rs138863694 0.00004
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys) rs201197735 0.00003
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) rs145197671 0.00003
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) rs543224303 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 0.00003
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg) rs778371396 0.00003
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) rs760068830 0.00003
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly) rs768059942 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) rs199506866 0.00002
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe) rs376041895 0.00002
NM_005055.5(RAPSN):c.650G>A (p.Arg217His) rs763058066 0.00002
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 0.00001
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) rs529117281 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys) rs756519962 0.00001
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) rs150503333 0.00001
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser) rs370123138 0.00001
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys) rs1165174416 0.00001
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr) rs1486159580 0.00001
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu) rs750772292 0.00001
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp) rs778157857 0.00001
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln) rs568433059 0.00001
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys) rs11556408 0.00001
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn) rs781724566 0.00001
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala) rs770016019 0.00001
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) rs1341207988 0.00001
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) rs1164228546 0.00001
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe) rs1256816164 0.00001
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys) rs1326936118 0.00001
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) rs148600999 0.00001
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr) rs780985479 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) rs747627949 0.00001
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) rs756738642 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.662G>A (p.Arg221His) rs1377574572 0.00001
NM_005055.5(RAPSN):c.690+14G>T rs752360126 0.00001
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro) rs780963721 0.00001
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn) rs750888238 0.00001
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) rs753956536 0.00001
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005055.5(RAPSN):c.912+6G>A rs781362707 0.00001
NC_000011.9:g.(?_47431646)_(47470726_?)dup
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly) rs1252992478
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln) rs1595896567
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=) rs778228002
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln) rs1241928450
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys) rs1197895855
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr) rs2076431469
NM_005055.5(RAPSN):c.173G>A (p.Arg58His) rs373437117
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His) rs1555143594
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys) rs2153311689
NM_005055.5(RAPSN):c.192+5G>T
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu) rs1565688293
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn) rs150051760
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn) rs1198989939
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val) rs1007398586
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) rs2076424527
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr) rs2153311318
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg) rs777801296
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) rs2076423375
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro) rs2153311254
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr) rs1198813718
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del) rs1595902555
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg) rs1219888816
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly) rs121909257
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser) rs779881502
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile) rs752415268
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp) rs2153309064
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val) rs1565684828
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
NM_005055.5(RAPSN):c.691-2_732dup rs2076367688
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro) rs2076367706
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro) rs1217675127
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr) rs2153308622
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly) rs150207592
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys) rs1418635230
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met) rs755310896
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg) rs1262674788
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu) rs143668632
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg) rs1294627986
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
NM_005055.5(RAPSN):c.912G>A (p.Lys304=) rs1273342588
NM_005055.5(RAPSN):c.919G>C (p.Asp307His) rs1565683625
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg) rs2076338568
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) rs1013180221
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln) rs201947904

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