ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by New York Genome Center

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu) rs146646020 0.00081
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_001127644.2(GABRA1):c.-258T>C rs183280626 0.00026
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile) rs552582918 0.00019
NM_015047.3(EMC1):c.2455G>A (p.Ala819Thr) rs371524055 0.00016
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln) rs563243550 0.00016
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser) rs766355858 0.00013
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp) rs773708821 0.00011
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673 0.00011
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln) rs374546223 0.00009
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_006922.4(SCN3A):c.2391+3A>G rs369416840 0.00009
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu) rs369627050 0.00008
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His) rs374896394 0.00006
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His) rs757667036 0.00006
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) rs372361502 0.00006
NM_015213.4(DENND5A):c.2840A>G (p.Asn947Ser) rs779865474 0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00006
NM_030948.6(PHACTR1):c.664+2178C>G rs761790090 0.00006
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter) rs201199439 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=) rs568763160 0.00005
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln) rs149633993 0.00005
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018 0.00005
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys) rs200835381 0.00005
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00004
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys) rs139028803 0.00004
NM_006180.6(NTRK2):c.25G>A (p.Gly9Arg) rs1373336521 0.00004
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg) rs936685159 0.00004
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys) rs775542349 0.00004
NM_015047.3(EMC1):c.1632+2T>C rs760060777 0.00004
NM_015213.4(DENND5A):c.2050A>G (p.Ser684Gly) rs1377065655 0.00004
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) rs778801242 0.00004
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys) rs751841577 0.00004
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020988.3(GNAO1):c.723+7070C>T rs756529307 0.00004
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) rs765573579 0.00004
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr) rs1971327716 0.00003
NM_001100913.3(PACS2):c.2647G>A (p.Ala883Thr) rs367840030 0.00003
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln) rs572047686 0.00003
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) rs746338306 0.00003
NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met) rs762216794 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001148.6(ANK2):c.2384A>C (p.Asn795Thr) rs769106499 0.00002
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) rs1260685558 0.00002
NM_001278512.2(AP3B2):c.1379-6C>G rs1030446693 0.00002
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg) rs758380489 0.00002
NM_001378457.1(DMXL2):c.7312C>T (p.Pro2438Ser) rs142404836 0.00002
NM_001387690.1(KATNAL2):c.739C>T (p.His247Tyr) rs1569106508 0.00002
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) rs768629864 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_198904.4(GABRG2):c.108-3373G>A rs1433555018 0.00002
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr) rs755919316 0.00001
NM_000807.4(GABRA2):c.764T>C (p.Ile255Thr) rs767460850 0.00001
NM_000810.4(GABRA5):c.1166C>T (p.Pro389Leu) rs779089481 0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu) rs754878801 0.00001
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile) rs761726968 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys) rs758150597 0.00001
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met) rs762251880 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.970+6A>T rs371629371 0.00001
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln) rs762635516 0.00001
NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile) rs781913910 0.00001
NM_001100913.3(PACS2):c.827C>T (p.Ala276Val) rs377732984 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys) rs773140619 0.00001
NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met) rs1010772312 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu) rs377297262 0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His) rs373971175 0.00001
NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met) rs767620162 0.00001
NM_001205293.3(CACNA1E):c.4187G>A (p.Arg1396His) rs776066299 0.00001
NM_001205293.3(CACNA1E):c.513-15449G>A rs1649408073 0.00001
NM_001205293.3(CACNA1E):c.6901A>G (p.Asn2301Asp) rs1662050689 0.00001
NM_001278512.2(AP3B2):c.360+7G>A rs1469176151 0.00001
NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile) rs769211538 0.00001
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) rs782001294 0.00001
NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu) rs1026710468 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys) rs764177776 0.00001
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu) rs1791617298 0.00001
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His) rs1459691759 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr) rs956332291 0.00001
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr) rs768937191 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_006160.4(NEUROD2):c.169C>T (p.Pro57Ser) rs981371381 0.00001
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu) rs754747576 0.00001
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met) rs762536754 0.00001
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr) rs1568659088 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_015047.3(EMC1):c.464A>T (p.His155Leu) rs752316981 0.00001
NM_015080.4(NRXN2):c.3410C>T (p.Thr1137Ile) rs150390440 0.00001
NM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met) rs1328047091 0.00001
NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) rs767630251 0.00001
NM_015267.4(CUX2):c.1267C>G (p.Pro423Ala) rs1381221552 0.00001
NM_015267.4(CUX2):c.1603C>T (p.Pro535Ser) rs1365473132 0.00001
NM_015267.4(CUX2):c.1922G>A (p.Arg641His) rs371998616 0.00001
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs) rs774562545 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser) rs1336529060 0.00001
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His) rs1055618053 0.00001
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367 0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) rs1360721056 0.00001
NM_172107.4(KCNQ2):c.1024-5C>T rs762121418 0.00001
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser) rs984632499 0.00001
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu) rs868642147 0.00001
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala) rs972002974 0.00001
NM_183381.3(RNF13):c.613A>G (p.Lys205Glu) rs771241791 0.00001
NM_198503.5(KCNT2):c.2674A>G (p.Met892Val) rs1219046745 0.00001
NC_000009.12:g.73165555_73173279dup
NC_000015.10:g.51681311_51791472dup
NC_000016.10:g.77893032_78561479dup
NC_000020.11:g.49212886_49410642dup
NM_000807.4(GABRA2):c.76G>T (p.Val26Leu) rs769353682
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) rs1892475061
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe) rs2140696672
NM_000834.5(GRIN2B):c.1126-3C>T rs1555112424
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser) rs199935748
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn) rs202133231
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu) rs2147476513
NM_001009996.3(DALRD3):c.1225C>T (p.Arg409Cys) rs1466251286
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro) rs2131501072
NM_001032221.6(STXBP1):c.38-300C>T rs2132435278
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=) rs752943575
NM_001040142.2(SCN2A):c.1058G>A (p.Cys353Tyr) rs1697566111
NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu) rs766530029
NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg) rs1555415243
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387
NM_001127644.2(GABRA1):c.586T>C (p.Tyr196His) rs2113414428
NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg) rs2113446513
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn) rs868778058
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys) rs2095969252
NM_001165963.4(SCN1A):c.-142G>A rs2106003538
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) rs1398374184
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) rs1553524977
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr) rs1887944313
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) rs2147537859
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp) rs868762744
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) rs2147542235
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001205293.3(CACNA1E):c.1422A>T (p.Lys474Asn) rs2102461555
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp) rs1355669731
NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs) rs2102558297
NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser) rs1007809575
NM_001205293.3(CACNA1E):c.3612+226A>G rs1486716719
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr) rs369634310
NM_001205293.3(CACNA1E):c.951+29674C>T rs1654651595
NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]
NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile) rs1750025322
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser) rs2151427966
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001356.5(DDX3X):c.285-12T>A rs2063865427
NM_001365999.1(SZT2):c.*1719del rs776828656
NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser) rs2153933426
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp) rs538720577
NM_001367561.1(DOCK7):c.389+2061A>G rs2149688351
NM_001378457.1(DMXL2):c.358C>T (p.Pro120Ser) rs2050187178
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile) rs1679434397
NM_003491.4(NAA10):c.472-38C>G rs2065158858
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004113.6(FGF12):c.125-3181A>G rs1577367655
NM_004113.6(FGF12):c.14-47649A>G rs2108776132
NM_004113.6(FGF12):c.145G>C (p.Val49Leu) rs199832838
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn) rs2108576388
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_004855.5(PIGB):c.795-1G>C rs1163732372
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005458.8(GABBR2):c.*1906T>C rs1588081632
NM_005458.8(GABBR2):c.166C>G (p.Leu56Val) rs1830933309
NM_005918.4(MDH2):c.899A>G (p.Glu300Gly) rs2116708081
NM_006160.4(NEUROD2):c.211G>A (p.Ala71Thr) rs537108143
NM_006180.6(NTRK2):c.1234A>G (p.Asn412Asp) rs201342791
NM_006180.6(NTRK2):c.1870G>C (p.Val624Leu)
NM_006279.5(ST3GAL3):c.-31+9631T>C rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His) rs2082916829
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr) rs2060557128
NM_006922.4(SCN3A):c.-50-2312T>C rs1690638367
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr) rs2105833109
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu) rs944775553
NM_012479.4(YWHAG):c.80T>G (p.Met27Arg) rs2115666932
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014905.5(GLS):c.704A>G (p.Tyr235Cys) rs112403775
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015076.5(CDK19):c.457-3T>C rs2114758446
NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs) rs1376454917
NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg) rs2128805194
NM_015178.3(RHOBTB2):c.978C>A (p.His326Gln) rs559073741
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015213.4(DENND5A):c.2818G>A (p.Val940Ile) rs1444738863
NM_015267.4(CUX2):c.137T>C (p.Ile46Thr) rs371927310
NM_015267.4(CUX2):c.1481C>T (p.Pro494Leu) rs2136373221
NM_015267.4(CUX2):c.3133C>T (p.Pro1045Ser) rs759732385
NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys) rs1803836293
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) rs901985864
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020988.3(GNAO1):c.303+4852A>G rs2143533711
NM_020988.3(GNAO1):c.304-19275T>C rs1475730892
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_022897.5(RANBP17):c.1710+75929A>G rs2127639991
NM_030948.6(PHACTR1):c.1252G>T (p.Val418Phe) rs756423380
NM_030948.6(PHACTR1):c.1393_1447+1del rs1778054792
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met) rs2127450867
NM_030948.6(PHACTR1):c.163A>G (p.Ile55Val) rs928863874
NM_030948.6(PHACTR1):c.250+8924C>G rs1427631629
NM_030948.6(PHACTR1):c.275C>T (p.Ala92Val) rs767982489
NM_030948.6(PHACTR1):c.664+2260T>A rs1322402598
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His) rs1977288029
NM_057175.5(NAA15):c.55-2A>C
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_145314.3(UCMA):c.17_220+223del rs2131608474
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser) rs2091568246
NM_172107.4(KCNQ2):c.1763+1576T>G rs62208003
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_198503.5(KCNT2):c.2680G>A (p.Asp894Asn) rs1659588692
NM_198503.5(KCNT2):c.2831A>G (p.Tyr944Cys) rs2147868112
NM_198904.4(GABRG2):c.1153-8C>G rs771660227
NM_203446.3(SYNJ1):c.765G>C (p.Leu255Phe) rs750608040

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