ClinVar Miner

List of variants reported as likely pathogenic for neonatal-onset developmental and epileptic encephalopathy

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 424
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_024818.6(UBA5):c.215G>A (p.Arg72His) rs150313260 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_024818.6(UBA5):c.684G>A (p.Ala228=) rs1313071575 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) rs746055240 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
NC_000012.11:g.52199766_52388207del
NC_000016.9:g.78159969_78320350del
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NC_000019.9:g.(?_13474954)_(13476240_?)del
NC_000020.10:g.(?_8661338)_(8678351_?)del
NC_000020.10:g.(?_8665559)_(8770928_?)dup
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) rs2110051822
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu) rs1970945661
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr) rs1970995171
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val) rs901526282
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp) rs2147455922
NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val) rs2147475435
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu) rs1971341588
NM_001127221.2(CACNA1A):c.5532-2A>G
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127221.2(CACNA1A):c.5585C>T (p.Pro1862Leu) rs2144616690
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1862del (p.Phe621fs)
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) rs2145004096
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) rs2144956340
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter) rs2144889289
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.3882+2T>C rs2057168559
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) rs2144767386
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg) rs2144748225
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln) rs2055835744
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5531G>A (p.Gly1844Asp)
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) rs2059190701
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter) rs2065788445
NM_001199107.2(TBC1D24):c.2T>C (p.Met1Thr)
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) rs1942779292
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) rs1942828881
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro) rs879255702
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.2857T>C (p.Cys953Arg)
NM_001330260.2(SCN8A):c.2901+1G>C rs1942832440
NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) rs794727361
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro) rs2138904112
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr) rs1938093232
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe) rs2138904598
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr) rs2138908345
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys) rs2138909536
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg) rs1555228771
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys) rs796053219
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4674C>A (p.Asn1558Lys)
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp) rs796053224
NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg) rs1938713472
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) rs1938714598
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630
NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr) rs2152156655
NM_001605.3(AARS1):c.1897del (p.Arg633fs) rs2152154412
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser) rs1555539157
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His) rs2082366378
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)
NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu) rs2082424831
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly) rs2145946848
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003705.5(SLC25A12):c.225del (p.Glu76fs) rs1685036155
NM_003705.5(SLC25A12):c.326-2A>C rs1573977142
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser) rs2105895501
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)
NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)
NM_004171.4(SLC1A2):c.689T>C (p.Ile230Thr)
NM_004171.4(SLC1A2):c.746del (p.Phe249fs)
NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile) rs2101396443
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser) rs1557731896
NM_004974.4(KCNA2):c.1220C>T (p.Pro407Leu)
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) rs1570752696
NM_004974.4(KCNA2):c.1225A>C (p.Ile409Leu)
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer) rs2101403658
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser) rs2101398595
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
NM_004974.4(KCNA2):c.929A>G (p.His310Arg) rs1649470988
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1132G>A (p.Val378Ile)
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe) rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) rs1984233764
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.2130del (p.Cys710fs)
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) rs2122803080
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.937C>A (p.His313Asn)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.995G>A (p.Gly332Asp)
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.865+1G>T
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699
NM_015192.4(PLCB1):c.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015192.4(PLCB1):c.862+1G>A
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)
NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.35C>T (p.Thr12Met)
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.791+1G>A rs1164465811
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016373.4(WWOX):c.929G>C (p.Arg310Pro) rs765339835
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]
NM_020708.5(SLC12A5):c.1030C>T (p.Gln344Ter)
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1337-2A>G
NM_020708.5(SLC12A5):c.147+1G>A
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.2012+1G>T rs2145497450
NM_020708.5(SLC12A5):c.2609A>C (p.Gln870Pro)
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
NM_020708.5(SLC12A5):c.3110+1G>A
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
NM_020708.5(SLC12A5):c.53-2A>C
NM_020708.5(SLC12A5):c.53-2A>G rs2084483775
NM_020708.5(SLC12A5):c.626C>T (p.Pro209Leu)
NM_020708.5(SLC12A5):c.854+1G>A
NM_021072.4(HCN1):c.1096C>A (p.Pro366Thr)
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_021072.4(HCN1):c.499T>C (p.Phe167Leu)
NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)
NM_021072.4(HCN1):c.701A>G (p.Tyr234Cys)
NM_021072.4(HCN1):c.794T>A (p.Leu265His)
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr) rs61748106
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_024818.6(UBA5):c.297+2T>C
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del
NM_177550.5(SLC13A5):c.1247del (p.Gly416fs)
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) rs2150964787
NM_177550.5(SLC13A5):c.1438-2A>G
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.232-2A>G rs1973878360
NM_177550.5(SLC13A5):c.368+1G>A
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.425del (p.Thr142fs) rs2151495220
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) rs1973699059
NM_177550.5(SLC13A5):c.839+1G>A rs1973697345
NM_177550.5(SLC13A5):c.840-2A>G

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