ClinVar Miner

List of variants reported as uncertain significance for Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy

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Total variants: 196
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HGVS dbSNP
NC_000010.11:g.77637817G>T
NM_001161352.2(KCNMA1):c.*1006G>A rs200955430
NM_001161352.2(KCNMA1):c.*1022_*1025TTTG[1] rs755720081
NM_001161352.2(KCNMA1):c.*1025G>C rs886047263
NM_001161352.2(KCNMA1):c.*1131C>A
NM_001161352.2(KCNMA1):c.*115C>A
NM_001161352.2(KCNMA1):c.*1165C>T rs886047262
NM_001161352.2(KCNMA1):c.*1202C>A rs200435801
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921
NM_001161352.2(KCNMA1):c.*129T>G
NM_001161352.2(KCNMA1):c.*1507G>A
NM_001161352.2(KCNMA1):c.*1529C>T
NM_001161352.2(KCNMA1):c.*15G>A rs200873312
NM_001161352.2(KCNMA1):c.*1633C>T
NM_001161352.2(KCNMA1):c.*1739G>T rs184468198
NM_001161352.2(KCNMA1):c.*1887G>A rs886047261
NM_001161352.2(KCNMA1):c.*1935A>G rs886047260
NM_001161352.2(KCNMA1):c.*1937T>G rs886047259
NM_001161352.2(KCNMA1):c.*2015_*2016TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*21G>A
NM_001161352.2(KCNMA1):c.*2226A>G rs560236547
NM_001161352.2(KCNMA1):c.*223A>G rs886047267
NM_001161352.2(KCNMA1):c.*2278G>A rs886047257
NM_001161352.2(KCNMA1):c.*2325T>A rs41281548
NM_001161352.2(KCNMA1):c.*2326C>A
NM_001161352.2(KCNMA1):c.*2373dup rs552322812
NM_001161352.2(KCNMA1):c.*394C>A rs41281550
NM_001161352.2(KCNMA1):c.*411_*413GTT[4] rs879619415
NM_001161352.2(KCNMA1):c.*429_*432CTTT[2] rs886047266
NM_001161352.2(KCNMA1):c.*497A>G rs200933957
NM_001161352.2(KCNMA1):c.*50C>T
NM_001161352.2(KCNMA1):c.*531C>T rs748726029
NM_001161352.2(KCNMA1):c.*539T>C rs886047265
NM_001161352.2(KCNMA1):c.*570T>C rs886047264
NM_001161352.2(KCNMA1):c.*69A>G
NM_001161352.2(KCNMA1):c.*834T>C rs543740279
NM_001161352.2(KCNMA1):c.*862A>G
NM_001161352.2(KCNMA1):c.-104G>A
NM_001161352.2(KCNMA1):c.-104_-96dup rs1555529241
NM_001161352.2(KCNMA1):c.-116_-114GGC[7] rs781056387
NM_001161352.2(KCNMA1):c.-131C>T
NM_001161352.2(KCNMA1):c.-25C>T rs373677230
NM_001161352.2(KCNMA1):c.-57G>T rs886047271
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_001161352.2(KCNMA1):c.1131+13C>A rs886047268
NM_001161352.2(KCNMA1):c.1131+3dup rs545073914
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr)
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup)
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup)
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe)
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile)
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile)
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup)
NM_001161352.2(KCNMA1):c.13_15GGC[2] (p.Gly7_Gly10del)
NM_001161352.2(KCNMA1):c.13_15GGC[5] (p.Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13_15GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113
NM_001161352.2(KCNMA1):c.144_146TTC[1] (p.Ser58_Ser60del)
NM_001161352.2(KCNMA1):c.144_146TTC[2] (p.Ser59_Ser60del)
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu)
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=) rs760119167
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) rs201400928
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe)
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619
NM_001161352.2(KCNMA1):c.1593+10C>T rs200770082
NM_001161352.2(KCNMA1):c.1593+11G>T
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) rs1447211434
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) rs143385319
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del)
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del)
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) rs746337315
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu)
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) rs768769748
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) rs200668674
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu)
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg)
NM_001161352.2(KCNMA1):c.1860-4G>T
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) rs749265202
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val)
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) rs200013065
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu)
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr)
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg)
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala)
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) rs781228418
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln)
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn)
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu)
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr)
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser)
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val)
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg)
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser)
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg)
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del)
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg)
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del)
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser)
NM_001161352.2(KCNMA1):c.3016+6G>A
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=)
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=)
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
NM_001161352.2(KCNMA1):c.3147+15T>C
NM_001161352.2(KCNMA1):c.3147+6T>C
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) rs764468883
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270
NM_001161352.2(KCNMA1):c.31_33AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.31_33AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile)
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=)
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser)
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) rs780623276
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg)
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) rs1589551484
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu)
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser)
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter)
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp)
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
NM_001161352.2(KCNMA1):c.36_38CGG[10] (p.Gly18_Gly20dup)
NM_001161352.2(KCNMA1):c.36_38CGG[4] (p.Gly18_Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del)
NM_001161352.2(KCNMA1):c.378+7C>T
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser)
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile)
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) rs142858967
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) rs200741233
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) rs886047269
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup)
NM_001161352.2(KCNMA1):c.602+12A>G
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) rs1598200324
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg)
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val)
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) rs779829350
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys)
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg)
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe)
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser)
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) rs201551432

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