ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Mendelics

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.-3C>G rs10979724 0.99999
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_020822.3(KCNT1):c.600+59A>C rs59909130 0.57178
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_020822.3(KCNT1):c.3502+1584G>A rs759235951 0.00006
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) rs993963334 0.00003
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181 0.00002
NM_153682.3(PIGP):c.22C>G (p.Pro8Ala) rs201170767 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NC_000002.12:g.166051989del rs1574266816
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) rs1595438268
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val) rs2147455888
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter) rs2131501460
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) rs1588339898
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) rs1461664423
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp) rs1588309392
NM_001032221.6(STXBP1):c.430-1G>A rs796053354
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.795-2A>C rs2131481227
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001042646.3(TRAK1):c.1963+101GGA[12] rs10634555
NM_001099922.3(ALG13):c.120A>C (p.Gln40His) rs2147624939
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) rs1603307865
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) rs1603341328
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) rs1603308963
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) rs1600242882
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) rs1600198481
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) rs2144559262
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) rs1599292631
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) rs121908225
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1028+1G>A rs863225030
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.207del (p.Pro70fs) rs1574371902
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter) rs1574209023
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs) rs1574208760
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2415+1G>A rs886041292
NM_001165963.4(SCN1A):c.262_264+1del rs1574371141
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) rs1574168611
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) rs1574069132
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) rs1574052179
NM_001165963.4(SCN1A):c.384-12A>C rs1574291210
NM_001165963.4(SCN1A):c.4003-14C>T rs1241008825
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) rs1573963975
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) rs1573949198
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_001165963.4(SCN1A):c.684del (p.Val229fs) rs1574271602
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln) rs2102682130
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) rs1596183293
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_001326342.2(CELF2):c.1353del (p.Asp451fs) rs2132555667
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
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.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) rs1571266478
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_002641.4(PIGA):c.955G>A (p.Val319Met) rs765961204
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
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.956C>T (p.Ser319Phe) rs1984259606
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.485dup (p.Gly163fs) rs2138660968
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.85del (p.Gln29fs) rs1594382746
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val) rs778744191
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) rs1574159505
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter) rs1389455796
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln) rs1572001567
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) rs1783518295
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016373.4(WWOX):c.*187_*190dup rs1597489135
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs) rs2140714298
NM_019066.5(MAGEL2):c.2199del (p.Glu734fs) rs1595332359
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter) rs2140713056
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe) rs1057522914
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg) rs2143272046
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) rs1596867702
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg) rs587777057
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg) rs2143664861
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) rs2143664881
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe) rs1057518440
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) rs1114167431
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe) rs2143699618
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_024818.6(UBA5):c.1A>G (p.Met1Val) rs2107921941
NM_024818.6(UBA5):c.36_37del (p.Gln13fs) rs2107922089
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) rs2102991012
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) rs2102985675
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) rs773969888
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) rs1573337948
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) rs1601945599
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) rs794729222
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) rs794729197
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn) rs1572418357
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser) rs2148537524

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