ClinVar Miner

List of variants studied for Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 118
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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.*1100C>T rs199706896
NM_001161352.2(KCNMA1):c.*1131C>A
NM_001161352.2(KCNMA1):c.*113dup rs144100057
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.*1243T>C rs141466507
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*129T>G
NM_001161352.2(KCNMA1):c.*1315C>T
NM_001161352.2(KCNMA1):c.*1507G>A
NM_001161352.2(KCNMA1):c.*1529C>T
NM_001161352.2(KCNMA1):c.*1571C>T rs10762733
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.*1765T>C rs80189498
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.*1957C>T rs7073015
NM_001161352.2(KCNMA1):c.*2015_*2016TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*2138C>T
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003
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.*321C>T rs7078702
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.*488C>A rs2116830
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.*634C>G rs74139846
NM_001161352.2(KCNMA1):c.*690C>A rs145289064
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.*932G>T rs76644618
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
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.1131+13C>A rs886047268
NM_001161352.2(KCNMA1):c.1131+3dup rs545073914
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
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.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113
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.1563C>A (p.Ile521=) rs78544619
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_001161352.2(KCNMA1):c.1593+11G>T
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_001161352.2(KCNMA1):c.1860-4G>T
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala)
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
NM_001161352.2(KCNMA1):c.3147+15T>C
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
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.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser)
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
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.602+12A>G
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097

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