ClinVar Miner

List of variants reported as not provided for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448 0.00086
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) rs138852641 0.00007
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368 0.00004
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val) rs777667628 0.00004
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys) rs1351632820 0.00001
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239 0.00001
NM_001271.4(CHD2):c.557T>C (p.Val186Ala) rs760795656 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg) rs370333805 0.00001
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) rs118192248 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu) rs12481082 0.00001
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter) rs74315392 0.00001
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn) rs1397681630
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met) rs1889329356
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile) rs1889964767
NM_000834.5(GRIN2B):c.2438T>C (p.Leu813Pro)
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) rs1697272829
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys) rs1860016560
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1329-1G>T
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser) rs2042447713
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=) rs1327079068
NM_001134407.3(GRIN2A):c.1993C>T (p.Leu665Phe)
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter) rs2147218877
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004519.4(KCNQ3):c.1019G>T (p.Gly340Val) rs2130128165
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) rs2130121430
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys) rs1459374430
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) rs1825159081
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) rs1826712021
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe) rs2130134022
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) rs118192247
NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser) rs1064794632
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His) rs1162306056
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu) rs1162306056
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.2(KCNQ2):c.(?_-177)_690+?del
NM_172107.2(KCNQ2):c.1248-?_(*455_?)del
NM_172107.2(KCNQ2):c.1764-?_(*455_?)del
NM_172107.2:c.(1228_1230)del12
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg) rs118192217
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val) rs1057516106
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) rs1057516106
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro) rs1057516108
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly) rs118192218
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe) rs1057516110
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys) rs118192219
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys) rs1057516111
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs) rs1057516113
NM_172107.4(KCNQ2):c.1148+2T>G rs118192221
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer) rs1057516114
NM_172107.4(KCNQ2):c.1217+2T>G rs118192223
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser) rs118192224
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs) rs1057516117
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs) rs1555854036
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter) rs1555853983
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1764-2A>G rs118192238
NM_172107.4(KCNQ2):c.1764-6C>A rs118192239
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) rs118192237
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) rs201868078
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) rs1555851550
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs) rs1555851445
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) rs118192240
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) rs118192241
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) rs118192242
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs) rs118192243
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.232del (p.Gln78fs) rs118192189
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs) rs118192245
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.296+1G>A rs118192190
NM_172107.4(KCNQ2):c.297-2A>G rs796052615
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr) rs118192186
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del) rs118192191
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) rs1057516076
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del) rs118192192
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly) rs118192193
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.387+1G>T rs118192195
NM_172107.4(KCNQ2):c.388-1_389del rs118192196
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp) rs1057516078
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) rs1057516080
NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu) rs1057516081
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
NM_172107.4(KCNQ2):c.585dup (p.Ala196fs) rs118192198
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.592_594delinsA (p.Arg198fs) rs1057516084
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) rs118192201
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) rs1057516089
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn) rs1057516090
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs) rs118192187
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser) rs118192207
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val) rs118192209
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs) rs118192210
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) rs118192211
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.928-1G>C rs1057516102
NM_172107.4(KCNQ2):c.939dup (p.Ser314fs) rs118192213
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter) rs118192214
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216

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