ClinVar Miner

List of variants reported as uncertain significance for complex neurodevelopmental disorder by Baylor Genetics

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_004855.5(PIGB):c.1432C>G (p.Leu478Val) rs187070265 0.00109
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) rs147455569 0.00104
NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=) rs138585463 0.00085
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu) rs146646020 0.00081
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val) rs140802292 0.00075
NM_001367561.1(DOCK7):c.2605G>A (p.Gly869Ser) rs201823761 0.00069
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg) rs139919081 0.00047
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) rs529642370 0.00043
NM_001378457.1(DMXL2):c.7148C>G (p.Ala2383Gly) rs140233306 0.00043
NM_001278512.2(AP3B2):c.1183-19T>G rs377729111 0.00036
NM_001042646.3(TRAK1):c.2345C>T (p.Pro782Leu) rs112854798 0.00034
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_015047.3(EMC1):c.1109A>G (p.Asn370Ser) rs144675935 0.00026
NM_015047.3(EMC1):c.104A>G (p.Gln35Arg) rs147726649 0.00022
NM_001365999.1(SZT2):c.8775G>C (p.Gln2925His) rs762236975 0.00019
NM_153682.3(PIGP):c.-20T>G rs112970770 0.00017
NM_015047.3(EMC1):c.305A>G (p.Asn102Ser) rs371844391 0.00016
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_005918.4(MDH2):c.376G>A (p.Ala126Thr) rs371141951 0.00011
NM_014334.4(FRRS1L):c.740C>T (p.Pro247Leu) rs199731037 0.00011
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro) rs61752559 0.00011
NM_203446.3(SYNJ1):c.-57T>G rs921606190 0.00010
NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp) rs188892600 0.00009
NM_015047.3(EMC1):c.95+11G>A rs758051221 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile) rs201662175 0.00009
NM_015047.3(EMC1):c.2248G>A (p.Ala750Thr) rs148338469 0.00008
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) rs371360176 0.00008
NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met) rs368808380 0.00008
NM_001042646.3(TRAK1):c.212A>G (p.His71Arg) rs201136046 0.00007
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00007
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr) rs147201727 0.00006
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) rs142373936 0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) rs765855460 0.00006
NM_033453.4(ITPA):c.416G>A (p.Arg139Gln) rs771525761 0.00006
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) rs918131106 0.00006
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser) rs375546787 0.00005
NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys) rs143390199 0.00005
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_001042646.3(TRAK1):c.568G>A (p.Val190Ile) rs552538335 0.00004
NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys) rs760099699 0.00004
NM_001365999.1(SZT2):c.5668C>T (p.Pro1890Ser) rs772875195 0.00004
NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met) rs1174812322 0.00004
NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser) rs375246952 0.00004
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg) rs936685159 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_152743.4(BRAT1):c.1378C>T (p.Pro460Ser) rs373935601 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser) rs774766308 0.00003
NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro) rs775126490 0.00003
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_014334.4(FRRS1L):c.544G>A (p.Ala182Thr) rs776628840 0.00003
NM_014334.4(FRRS1L):c.604G>A (p.Val202Ile) rs753224453 0.00003
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00003
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00003
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe) rs758632567 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) rs780098532 0.00002
NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu) rs757342482 0.00002
NM_001365999.1(SZT2):c.1994G>A (p.Arg665His) rs754481570 0.00002
NM_001365999.1(SZT2):c.6500G>A (p.Gly2167Glu) rs146540759 0.00002
NM_001365999.1(SZT2):c.9185A>G (p.His3062Arg) rs745917157 0.00002
NM_001367561.1(DOCK7):c.4490C>T (p.Thr1497Met) rs200226943 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245 0.00002
NM_014334.4(FRRS1L):c.487G>A (p.Val163Ile) rs374214528 0.00002
NM_015047.3(EMC1):c.713C>T (p.Pro238Leu) rs199964251 0.00002
NM_015047.3(EMC1):c.737A>C (p.Gln246Pro) rs200901424 0.00002
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_022786.3(ARV1):c.29A>G (p.Gln10Arg) rs747844345 0.00002
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu) rs768025261 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_000330.4(RS1):c.185-3090_185-3089insT rs1158418673 0.00001
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_001037333.3(CYFIP2):c.2381T>C (p.Ile794Thr) rs934692505 0.00001
NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser) rs764538126 0.00001
NM_001100913.3(PACS2):c.58G>A (p.Val20Met) rs2058502984 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001365999.1(SZT2):c.10155+5G>C rs755843150 0.00001
NM_001365999.1(SZT2):c.2759G>A (p.Gly920Asp) rs764539994 0.00001
NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) rs200635457 0.00001
NM_001365999.1(SZT2):c.3919+16G>A rs753803790 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val) rs755029775 0.00001
NM_001365999.1(SZT2):c.9160G>A (p.Val3054Met) rs565123375 0.00001
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg) rs148287864 0.00001
NM_001367561.1(DOCK7):c.3098G>A (p.Arg1033Lys) rs1413099334 0.00001
NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr) rs765024443 0.00001
NM_001367561.1(DOCK7):c.5819G>A (p.Arg1940Gln) rs779959516 0.00001
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys) rs1445335859 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_005918.4(MDH2):c.421G>A (p.Ala141Thr) rs782204186 0.00001
NM_006279.5(ST3GAL3):c.303-9A>G rs762536905 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_015047.3(EMC1):c.2374G>C (p.Val792Leu) rs758769418 0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015213.4(DENND5A):c.1940A>G (p.Asp647Gly) rs1392402979 0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) rs1477942819 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg) rs753065727 0.00001
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
NM_020708.5(SLC12A5):c.148-16C>G rs751494861 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=) rs1394912099 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg) rs761602649 0.00001
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) rs780326561 0.00001
NM_033453.4(ITPA):c.316G>C (p.Gly106Arg) rs202194282 0.00001
NM_152743.4(BRAT1):c.1732C>T (p.His578Tyr) rs747577493 0.00001
NM_198503.5(KCNT2):c.1295-18C>T rs1189514330 0.00001
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro) rs1890741727
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_001037.5(SCN1B):c.*13G>A rs1555721564
NM_001037333.3(CYFIP2):c.1391T>G (p.Met464Arg)
NM_001037333.3(CYFIP2):c.1540C>T (p.Arg514Ter) rs868243549
NM_001037333.3(CYFIP2):c.1834C>A (p.Gln612Lys) rs1760952349
NM_001037333.3(CYFIP2):c.2011A>G (p.Asn671Asp) rs1761007330
NM_001037333.3(CYFIP2):c.2558A>G (p.Asn853Ser) rs1762073906
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.367A>C (p.Ile123Leu) rs1396703741
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro) rs1942124594
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu) rs1942189447
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln) rs1933583293
NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) rs2065927241
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro)
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) rs2057946815
NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg)
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) rs2057731579
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu)
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu) rs201789073
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys)
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser)
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) rs1433873178
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) rs1568574634
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) rs2059190094
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) rs2054617641
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser) rs766491965
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn) rs1855652617
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001139500.2(FGF13):c.137C>T (p.Ser46Phe)
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro) rs1693190884
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro) rs1692164539
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) rs1928402131
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) rs1248114037
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001191061.2(SLC25A22):c.658GAG[1] (p.Glu221del) rs1307254132
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly) rs2054031451
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=) rs2054119126
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu) rs2054212404
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln) rs1430565994
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro) rs2054438338
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg) rs1698156445
NM_001365999.1(SZT2):c.5779C>T (p.Arg1927Cys) rs370833658
NM_001365999.1(SZT2):c.6284A>G (p.Tyr2095Cys) rs947784174
NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu) rs766552506
NM_001365999.1(SZT2):c.7136G>T (p.Arg2379Leu) rs1204610877
NM_001365999.1(SZT2):c.7916G>T (p.Ser2639Ile) rs1655152526
NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=) rs867941005
NM_001367561.1(DOCK7):c.2654G>T (p.Arg885Ile) rs1645953907
NM_001367561.1(DOCK7):c.5494-4A>G
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_002080.4(GOT2):c.1256G>A (p.Gly419Asp)
NM_002080.4(GOT2):c.233C>T (p.Pro78Leu)
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) rs1922155142
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu) rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys) rs1400780690
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.2401-5A>G rs759687469
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala) rs1984245487
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.568-12T>G rs1984280025
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005249.5(FOXG1):c.455G>T (p.Gly152Val) rs796052460
NM_005918.4(MDH2):c.465C>G (p.Phe155Leu) rs1797912166
NM_005918.4(MDH2):c.4C>G (p.Leu2Val) rs1797376152
NM_006180.6(NTRK2):c.1306G>C (p.Val436Leu)
NM_006586.5(CNPY3):c.241G>T (p.Asp81Tyr)
NM_006586.5(CNPY3):c.276-32G>A rs1325158416
NM_006586.5(CNPY3):c.50TGC[5] (p.Leu22_Leu25del)
NM_006586.5(CNPY3):c.674A>G (p.Lys225Arg) rs1768399256
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) rs1060500006
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr) rs1259561654
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile) rs2105710443
NM_014334.3(FRRS1L):c.32C>G (p.Ala11Gly) rs560644274
NM_014334.4(FRRS1L):c.-17G>C rs1831566217
NM_014334.4(FRRS1L):c.269A>T (p.Asp90Val) rs959347221
NM_015047.3(EMC1):c.1107C>G (p.Phe369Leu) rs747996783
NM_015047.3(EMC1):c.1127A>C (p.Asn376Thr) rs1558106688
NM_015047.3(EMC1):c.1666C>A (p.Leu556Met)
NM_015047.3(EMC1):c.2281C>A (p.Leu761Ile)
NM_015047.3(EMC1):c.2591G>T (p.Gly864Val) rs2093425936
NM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr)
NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser) rs1811324175
NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala) rs1810887469
NM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys)
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015213.4(DENND5A):c.2189T>C (p.Ile730Thr) rs1848175647
NM_015213.4(DENND5A):c.2908A>C (p.Met970Leu) rs1162225544
NM_015213.4(DENND5A):c.3068A>T (p.Lys1023Ile) rs372389104
NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)
NM_016373.4(WWOX):c.*15G>T rs533890923
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801
NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met) rs756040501
NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln) rs2084676640
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) rs749426883
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) rs2084493674
NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu) rs1600595577
NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) rs1564383774
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) rs776850213
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn) rs771909772
NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu) rs1680922737
NM_033453.4(ITPA):c.66+3G>C rs1346504214
NM_139058.3(ARX):c.771C>T (p.Arg257=) rs1601948418
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) rs2048724116
NM_152268.4(PARS2):c.340G>A (p.Gly114Ser) rs778638516
NM_152743.4(BRAT1):c.1031C>T (p.Thr344Met) rs371239207
NM_152743.4(BRAT1):c.34C>G (p.Leu12Val) rs1554298600
NM_172107.4(KCNQ2):c.1118+18C>T rs2080900462
NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp) rs2082239531
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) rs779904079
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu) rs1974091514
NM_198503.5(KCNT2):c.976A>G (p.Arg326Gly) rs1673813088
NM_198904.4(GABRG2):c.632-5G>A rs1761614864
NM_198904.4(GABRG2):c.770-12G>A rs1764615198
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr) rs1485482944

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