ClinVar Miner

Variants with conflicting interpretations studied for Early infantile epileptic encephalopathy

Coded as:
Minimum review status of the submission for Early infantile epileptic encephalopathy: Y axis collection method of the submission for Early infantile epileptic encephalopathy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
886 222 0 215 142 0 42 346

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Early infantile epileptic encephalopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 16 5 0 0
likely pathogenic 11 0 5 0 0
uncertain significance 13 13 0 45 5
likely benign 2 0 63 0 46
benign 5 1 29 142 0

Condition to condition summary #

Total conditions: 33
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 160 0 119 59 0 3 176
not provided 0 142 0 28 61 0 22 108
History of neurodevelopmental disorder 0 51 0 42 11 0 0 53
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 4 0 40 12 0 0 52
Seizures 0 53 0 30 8 0 1 39
Epilepsy 0 3 0 15 2 0 0 17
Familial hemiplegic migraine 0 2 0 15 2 0 0 17
KCNQ2-Related Disorders 0 6 0 13 2 0 0 15
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 3 0 3 7 0 0 10
Early infantile epileptic encephalopathy 5 0 4 0 1 6 0 1 8
Early infantile epileptic encephalopathy 4 0 7 0 6 0 0 0 6
Rolandic epilepsy 0 0 0 0 0 0 6 6
Early infantile epileptic encephalopathy 7 0 9 0 2 0 0 3 5
Benign familial neonatal seizures 1 0 8 0 1 1 0 2 4
Severe myoclonic epilepsy in infancy 0 40 0 2 1 0 1 4
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 5 0 3 0 0 0 3
Early myoclonic encephalopathy 0 2 0 1 2 0 0 3
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 10 0 0 3 0 0 3
Generalized epilepsy with febrile seizures plus, type 2 0 4 0 2 0 0 1 3
Autistic disorder of childhood onset 0 0 0 0 2 0 0 2
Early infantile epileptic encephalopathy 13 0 5 0 0 1 0 1 2
Early infantile epileptic encephalopathy 17 0 1 0 2 0 0 0 2
Early infantile epileptic encephalopathy 55 0 0 0 0 0 0 2 2
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Focal epilepsy 0 0 0 1 0 0 0 1
Generalized tonic-clonic seizures 0 0 0 0 1 0 0 1
Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizures 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 6 0 0 0 0 1 1
Mental retardation, autosomal recessive 12; Early infantile epileptic encephalopathy 15 0 3 0 0 1 0 0 1
Seizures; Delayed speech and language development 0 0 0 1 0 0 0 1
Seizures; Generalized tonic-clonic seizures; Absence seizures 0 0 0 0 1 0 0 1
Severe intellectual deficiency 0 0 0 1 0 0 0 1
developmental delay with seizures 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 346
Download table as spreadsheet
HGVS dbSNP
NM_001032221.3(STXBP1):c.38-3T>C rs138763389
NM_001032221.3(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001130438.2(SPTAN1):c.1086-4C>G rs367718622
NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.2(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922
NM_001130438.2(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761
NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.2(SPTAN1):c.1621A>G (p.Met541Val) rs796053315
NM_001130438.2(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.2(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.2(SPTAN1):c.2163C>A (p.Ala721=) rs10760566
NM_001130438.2(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437
NM_001130438.2(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.2(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.2(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607
NM_001130438.2(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.2(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.2(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.2(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395
NM_001130438.2(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.2(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753
NM_001130438.2(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.2(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.2(SPTAN1):c.3579+3_3579+4dup rs797046004
NM_001130438.2(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.2(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.2(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.2(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529
NM_001130438.2(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.2(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801
NM_001130438.2(SPTAN1):c.4046+4C>T rs370704701
NM_001130438.2(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113
NM_001130438.2(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575
NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.2(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.2(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538
NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.2(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623
NM_001130438.2(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.2(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.2(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.2(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001130438.2(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.2(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.2(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132
NM_001130438.2(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.2(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.2(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.2(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.2(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438
NM_001130438.2(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.2(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.2(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901
NM_001130438.2(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706
NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.2(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.2(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358
NM_001130438.2(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.2(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.2(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.2(SPTAN1):c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) rs587784440
NM_001130438.2(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.2(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683
NM_001130438.2(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940
NM_001130438.2(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792
NM_001130438.2(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA rs554161838
NM_001130438.2(SPTAN1):c.7161-8G>A rs202180736
NM_001130438.2(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.2(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692
NM_001130438.2(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476
NM_001130438.2(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550
NM_001130438.2(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.2(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.2(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.2(SPTAN1):c.774G>A (p.Gln258=) rs138609094
NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001165963.1(SCN1A):c.1000C>G (p.Leu334Val) rs201870762
NM_001165963.1(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.1(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_001165963.1(SCN1A):c.1171-10_1171-9delTT rs372840031
NM_001165963.1(SCN1A):c.1378-3T>C rs150964803
NM_001165963.1(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684
NM_001165963.1(SCN1A):c.1662+9C>A rs7559148
NM_001165963.1(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.1(SCN1A):c.1818T>C (p.Asp606=) rs727504141
NM_001165963.1(SCN1A):c.2044-5delT rs549232924
NM_001165963.1(SCN1A):c.2044-5dupT rs549232924
NM_001165963.1(SCN1A):c.2378C>T (p.Thr793Met) rs762038032
NM_001165963.1(SCN1A):c.2421C>T (p.Phe807=) rs145101180
NM_001165963.1(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.1(SCN1A):c.265-4A>G rs776470979
NM_001165963.1(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.1(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.1(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.1(SCN1A):c.3060C>A (p.His1020Gln) rs150154265
NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.1(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.1(SCN1A):c.3573T>C (p.Cys1191=) rs750943685
NM_001165963.1(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.1(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.1(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.1(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.1(SCN1A):c.4167C>T (p.Asp1389=) rs376118833
NM_001165963.1(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.1(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.1(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.1(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.1(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.1(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.1(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.1(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.1(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.1(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.1(SCN1A):c.5797delC (p.Arg1933Glufs) rs587780446
NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.1(SCN1A):c.602+2dupT rs796053054
NM_001165963.1(SCN1A):c.68C>T (p.Ala23Val) rs139397227
NM_001165963.1(SCN1A):c.694+10A>G rs373417440
NM_001165963.1(SCN1A):c.965-1G>A rs794726824
NM_001165963.2(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.2(SCN1A):c.1680T>C (p.Arg560=) rs145662732
NM_001165963.2(SCN1A):c.1797G>A (p.Glu599=) rs145035963
NM_001165963.2(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.2(SCN1A):c.2590C>T (p.Leu864=) rs140035595
NM_001165963.2(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.2(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_001165963.2(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.2(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.2(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.2(SCN1A):c.5217C>T (p.Pro1739=) rs149315236
NM_001165963.2(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988
NM_001174051.2(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350
NM_003165.3(STXBP1):c.1111-2A>G rs1554778417
NM_003165.3(STXBP1):c.1256C>T (p.Thr419Met) rs748965227
NM_003165.3(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.3(STXBP1):c.1351G>A (p.Val451Ile) rs150259704
NM_003165.3(STXBP1):c.1356C>T (p.Thr452=) rs35099393
NM_003165.3(STXBP1):c.1404C>A (p.Ile468=) rs777499631
NM_003165.3(STXBP1):c.1548-7_1548-4delTTCT rs796053349
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1662C>T (p.Tyr554=) rs142595450
NM_003165.3(STXBP1):c.1702+10C>T rs147607230
NM_003165.3(STXBP1):c.1789G>A (p.Asp597Asn) rs749807465
NM_003165.3(STXBP1):c.247-8A>G rs199827018
NM_003165.3(STXBP1):c.250G>A (p.Val84Ile) rs34830702
NM_003165.3(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003165.3(STXBP1):c.430-9C>T rs748770943
NM_003165.3(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.3(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.3(STXBP1):c.807C>T (p.Ser269=) rs561329680
NM_003165.3(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003165.3(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003165.3(STXBP1):c.902+9C>A rs200737004
NM_003165.3(STXBP1):c.903-4C>G rs369625158
NM_006030.3(CACNA2D2):c.1833G>A (p.Lys611=) rs41305892
NM_006030.3(CACNA2D2):c.3369C>T (p.Leu1123=) rs77176698
NM_006279.3(ST3GAL3):c.118+10G>C rs147330005
NM_006279.3(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006279.4(ST3GAL3):c.398-7T>C rs114112844
NM_006279.4(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481
NM_006279.4(ST3GAL3):c.892-9G>A rs80055718
NM_006920.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.4(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.4(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.4(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.4(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.4(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.5(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_014191.3(SCN8A):c.*3_*5delGAG rs555793953
NM_014191.3(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.3(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.3(SCN8A):c.141C>T (p.Asp47=) rs149013279
NM_014191.3(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451
NM_014191.3(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_014191.3(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_014191.3(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.3(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_014191.3(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_014191.3(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_014191.3(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.3(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.3(SCN8A):c.2371-6A>G rs187002252
NM_014191.3(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.3(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_014191.3(SCN8A):c.270G>T (p.Thr90=) rs371712630
NM_014191.3(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.3(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014191.3(SCN8A):c.3321C>T (p.Asn1107=) rs374213514
NM_014191.3(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.3(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_014191.3(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.3(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_014191.3(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_014191.3(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.3(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_014191.3(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.3(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.3(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.3(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.3(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.3(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_014191.3(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.3(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.3(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.3(SCN8A):c.928+9C>T rs148027656
NM_020988.2(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.2(GNAO1):c.27G>A (p.Glu9=) rs139334934
NM_020988.2(GNAO1):c.414A>G (p.Gln138=) rs141057479
NM_020988.2(GNAO1):c.654C>T (p.Asp218=) rs139322464
NM_020988.2(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_020988.2(GNAO1):c.687C>T (p.Ser229=) rs546569747
NM_021072.3(HCN1):c.1041C>T (p.Tyr347=) rs140235085
NM_021072.3(HCN1):c.124C>T (p.Pro42Ser) rs56164833
NM_021072.3(HCN1):c.140G>T (p.Gly47Val) rs544994462
NM_021072.3(HCN1):c.159C>G (p.His53Gln) rs10066808
NM_021072.3(HCN1):c.1619-3T>C rs376434225
NM_021072.3(HCN1):c.1710C>T (p.Asn570=) rs141455774
NM_021072.3(HCN1):c.1783+4C>T rs188586020
NM_021072.3(HCN1):c.1797A>G (p.Ser599=) rs148932124
NM_021072.3(HCN1):c.192_206dup (p.Gly74_Glu75insGlyGlyGlyGlyGly)
NM_021072.3(HCN1):c.200_223del24 (p.Gly67_Gly74del) rs748849525
NM_021072.3(HCN1):c.215_223delGCGGCGGCG (p.Gly72_Gly74del) rs747975797
NM_021072.3(HCN1):c.2172C>T (p.Ala724=) rs56217199
NM_021072.3(HCN1):c.218_223delGCGGCG (p.Gly73_Gly74del) rs747975797
NM_021072.3(HCN1):c.2227C>G (p.Pro743Ala) rs560701504
NM_021072.3(HCN1):c.259C>T (p.Pro87Ser) rs370113959
NM_021072.3(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_024698.5(SLC25A22):c.132C>T (p.Arg44=) rs146402942
NM_024698.5(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953
NM_024698.5(SLC25A22):c.169G>A (p.Val57Ile) rs150242281
NM_024698.5(SLC25A22):c.327G>A (p.Ala109=) rs141975755
NM_024698.5(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_024698.5(SLC25A22):c.412+10G>T rs113091974
NM_024698.5(SLC25A22):c.413-8G>C rs376015598
NM_024698.5(SLC25A22):c.414C>T (p.Ala138=) rs199887745
NM_024698.5(SLC25A22):c.464G>C (p.Gly155Ala) rs200992080
NM_024698.5(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_024698.5(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_024698.5(SLC25A22):c.552C>A (p.Ala184=) rs368807589
NM_024698.5(SLC25A22):c.561C>T (p.Tyr187=) rs77117049
NM_024698.5(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_024698.5(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_024698.5(SLC25A22):c.618G>A (p.Pro206=) rs150544061
NM_024698.5(SLC25A22):c.705T>C (p.Ala235=) rs142861804
NM_024698.5(SLC25A22):c.735_736delCT (p.Cys246Terfs) rs796053242
NM_024698.5(SLC25A22):c.742+9A>G rs370309722
NM_024698.5(SLC25A22):c.75C>T (p.Cys25=) rs764930724
NM_024698.5(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_024698.5(SLC25A22):c.885C>T (p.Ile295=) rs543285265
NM_024698.5(SLC25A22):c.900C>T (p.Gly300=) rs1057522422
NM_024698.5(SLC25A22):c.933G>A (p.Ala311=) rs587781170
NM_138736.2(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_139318.4(KCNH5):c.351A>G (p.Glu117=) rs116027402
NM_153681.2(PIGP):c.456delA (p.Glu153Asnfs) rs778481061
NM_153681.2(PIGP):c.74T>C (p.Met25Thr) rs768633670
NM_172107.3(KCNQ2):c.1023+9A>G rs201787699
NM_172107.3(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.3(KCNQ2):c.1065C>T (p.Asp355=) rs200395340
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.1301+5C>T rs200872349
NM_172107.3(KCNQ2):c.1301+7C>T rs374877247
NM_172107.3(KCNQ2):c.1301+8G>T rs532111320
NM_172107.3(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.3(KCNQ2):c.1407C>T (p.Ala469=) rs1801385
NM_172107.3(KCNQ2):c.1419C>T (p.Leu473=) rs370155790
NM_172107.3(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.3(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.3(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.3(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.3(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.3(KCNQ2):c.1833G>A (p.Ala611=) rs564630217
NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.3(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.3(KCNQ2):c.2049C>T (p.His683=) rs150982653
NM_172107.3(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.3(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.3(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.3(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.3(KCNQ2):c.2119G>A (p.Ala707Thr)
NM_172107.3(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.3(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.3(KCNQ2):c.2385C>T (p.His795=) rs143016981
NM_172107.3(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.3(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.3(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.3(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274
NM_172107.3(KCNQ2):c.2571C>T (p.Thr857=) rs764525788
NM_172107.3(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172107.3(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.3(KCNQ2):c.515-9G>A rs755243604
NM_172107.3(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.3(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.3(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.795G>A (p.Ala265=) rs148654588
NM_172107.3(KCNQ2):c.888C>T (p.Thr296=) rs370760854
NM_172107.3(KCNQ2):c.900C>T (p.Ile300=) rs764404303
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_173728.3(ARHGEF15):c.1260+4G>A rs199691980
NM_174963.4(ST3GAL3):c.1152C>T (p.Asp384=) rs748922857
NM_174963.4(ST3GAL3):c.1286G>A (p.Arg429Gln) rs553120567
NM_174963.4(ST3GAL3):c.825C>T (p.Arg275=) rs115003742

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