ClinVar Miner

List of variants reported as likely benign for X-linked complex neurodevelopmental disorder

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 422
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891 0.00125
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542 0.00054
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934 0.00026
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744 0.00022
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606 0.00018
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) rs56182751 0.00016
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=) rs199625034 0.00016
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=) rs782580975 0.00015
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=) rs376406896 0.00014
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144 0.00012
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=) rs199879056 0.00011
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496 0.00011
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606 0.00010
NM_001184880.2(PCDH19):c.594C>G (p.Arg198=) rs370348930 0.00009
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) rs782248986 0.00009
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=) rs782354481 0.00009
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) rs145815177 0.00009
NM_001353921.2(ARHGEF9):c.31-29583C>A rs370045250 0.00009
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=) rs1178813036 0.00008
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=) rs370939779 0.00008
NM_001184880.2(PCDH19):c.1218G>C (p.Leu406=) rs368465446 0.00007
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) rs766347338 0.00007
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=) rs373181586 0.00007
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=) rs1413001108 0.00007
NM_001353921.2(ARHGEF9):c.402+7A>T rs373304318 0.00007
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_001184880.2(PCDH19):c.2973C>T (p.Ile991=) rs769375997 0.00006
NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=) rs781312992 0.00006
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=) rs368094294 0.00006
NM_001184880.2(PCDH19):c.591C>T (p.Asp197=) rs374554305 0.00006
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956 0.00006
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=) rs1057522740 0.00006
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752 0.00005
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=) rs751223449 0.00005
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=) rs772345040 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_001184880.2(PCDH19):c.34C>T (p.Leu12=) rs769164159 0.00005
NM_001353921.2(ARHGEF9):c.1390+18A>G rs782653539 0.00005
NM_001353921.2(ARHGEF9):c.1391-4C>G rs1556301481 0.00005
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=) rs782097997 0.00005
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu) rs369081815 0.00005
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=) rs55818901 0.00005
NM_001184880.2(PCDH19):c.1246C>A (p.His416Asn) rs778618689 0.00004
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=) rs768467022 0.00004
NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=) rs754841050 0.00004
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) rs138198839 0.00004
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295 0.00003
NM_001184880.2(PCDH19):c.2849-13T>C rs758872425 0.00003
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=) rs753986660 0.00003
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=) rs756958731 0.00003
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148 0.00003
NM_001184880.2(PCDH19):c.631C>T (p.Leu211=) rs771523465 0.00003
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033 0.00003
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=) rs782314375 0.00003
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg) rs371200226 0.00003
NM_001353921.2(ARHGEF9):c.583-18T>G rs1057521815 0.00003
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=) rs1322872780 0.00003
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=) rs1556358973 0.00003
NM_001184880.2(PCDH19):c.1200G>A (p.Glu400=) rs759132569 0.00002
NM_001184880.2(PCDH19):c.1552C>T (p.Leu518=) rs1197941611 0.00002
NM_001184880.2(PCDH19):c.1752C>T (p.Gly584=) rs1240901255 0.00002
NM_001184880.2(PCDH19):c.2289-11C>G rs777190334 0.00002
NM_001184880.2(PCDH19):c.2451C>T (p.His817=) rs759932441 0.00002
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=) rs766769854 0.00002
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684 0.00002
NM_001184880.2(PCDH19):c.3045C>T (p.Phe1015=) rs746702101 0.00002
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010 0.00002
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403 0.00002
NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=) rs746084690 0.00002
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406 0.00002
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=) rs759007349 0.00002
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=) rs373432764 0.00002
NM_001184880.2(PCDH19):c.390G>A (p.Pro130=) rs775408951 0.00002
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=) rs773244265 0.00002
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) rs369638371 0.00002
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129 0.00002
NM_001184880.2(PCDH19):c.894C>T (p.Val298=) rs1362026055 0.00002
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=) rs1381662261 0.00002
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=) rs1330960420 0.00002
NM_001353921.2(ARHGEF9):c.1078-19C>T rs1412565246 0.00002
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=) rs782387990 0.00002
NM_001353921.2(ARHGEF9):c.1390+11C>T rs782212638 0.00002
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=) rs782395885 0.00002
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=) rs781904925 0.00002
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys) rs782237174 0.00002
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=) rs1556389015 0.00002
NM_001353921.2(ARHGEF9):c.815+11G>A rs782246143 0.00002
NM_001184880.2(PCDH19):c.1032G>C (p.Pro344=) rs1429555639 0.00001
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954 0.00001
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=) rs903487668 0.00001
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077 0.00001
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215 0.00001
NM_001184880.2(PCDH19):c.1506C>T (p.Val502=) rs1301308123 0.00001
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) rs753119035 0.00001
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) rs754032170 0.00001
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=) rs1040413042 0.00001
NM_001184880.2(PCDH19):c.1662C>T (p.Leu554=) rs758658173 0.00001
NM_001184880.2(PCDH19):c.177A>T (p.Ser59=) rs1466130318 0.00001
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) rs1282368557 0.00001
NM_001184880.2(PCDH19):c.1881C>T (p.Thr627=) rs1368009329 0.00001
NM_001184880.2(PCDH19):c.1941C>T (p.His647=) rs765223789 0.00001
NM_001184880.2(PCDH19):c.1956C>G (p.Leu652=) rs1928356628 0.00001
NM_001184880.2(PCDH19):c.1962C>G (p.Ala654=) rs759032566 0.00001
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) rs770353924 0.00001
NM_001184880.2(PCDH19):c.201G>A (p.Ser67=) rs202078154 0.00001
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524 0.00001
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=) rs907375983 0.00001
NM_001184880.2(PCDH19):c.2288+9G>T rs753792839 0.00001
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485 0.00001
NM_001184880.2(PCDH19):c.2523C>T (p.Arg841=) rs374726171 0.00001
NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=) rs371444167 0.00001
NM_001184880.2(PCDH19):c.2619T>A (p.Thr873=) rs2098901532 0.00001
NM_001184880.2(PCDH19):c.2676-8C>T rs1174620986 0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914 0.00001
NM_001184880.2(PCDH19):c.2907G>A (p.Arg969=) rs766776515 0.00001
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=) rs1266028176 0.00001
NM_001184880.2(PCDH19):c.3033C>G (p.Thr1011=) rs1355245225 0.00001
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091 0.00001
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=) rs587781106 0.00001
NM_001184880.2(PCDH19):c.3213C>G (p.Leu1071=) rs1402645764 0.00001
NM_001184880.2(PCDH19):c.3306C>T (p.Asn1102=) rs1924606179 0.00001
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=) rs753229559 0.00001
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=) rs587781107 0.00001
NM_001184880.2(PCDH19):c.3393A>G (p.Glu1131=) rs1448795169 0.00001
NM_001184880.2(PCDH19):c.405G>A (p.Glu135=) rs1167814430 0.00001
NM_001184880.2(PCDH19):c.456C>T (p.Ser152=) rs760286079 0.00001
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=) rs781763211 0.00001
NM_001184880.2(PCDH19):c.639T>C (p.Gly213=) rs1349440230 0.00001
NM_001184880.2(PCDH19):c.705C>T (p.Asn235=) rs750043738 0.00001
NM_001184880.2(PCDH19):c.729C>T (p.Tyr243=) rs1166554052 0.00001
NM_001184880.2(PCDH19):c.741G>T (p.Val247=) rs1057521743 0.00001
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342 0.00001
NM_001184880.2(PCDH19):c.807C>A (p.Thr269=) rs1467272137 0.00001
NM_001184880.2(PCDH19):c.889C>T (p.Leu297=) rs1489598292 0.00001
NM_001184880.2(PCDH19):c.948G>T (p.Val316=) rs371533263 0.00001
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=) rs1556334992 0.00001
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=) rs1556334802 0.00001
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=) rs781947373 0.00001
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=) rs1556334685 0.00001
NM_001353921.2(ARHGEF9):c.1322-17A>T rs782417263 0.00001
NM_001353921.2(ARHGEF9):c.1391-12C>T rs2047417425 0.00001
NM_001353921.2(ARHGEF9):c.1391-5T>C rs1181371428 0.00001
NM_001353921.2(ARHGEF9):c.1391-7A>G rs1602145711 0.00001
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=) rs782705959 0.00001
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=) rs782665661 0.00001
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=) rs782806516 0.00001
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=) rs1367866917 0.00001
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=) rs782671712 0.00001
NM_001353921.2(ARHGEF9):c.30+20G>A rs1556464456 0.00001
NM_001353921.2(ARHGEF9):c.31-10G>T rs782313914 0.00001
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=) rs781834665 0.00001
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=) rs782079969 0.00001
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=) rs781937951 0.00001
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=) rs1556365249 0.00001
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=) rs1556365224 0.00001
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=) rs782598343 0.00001
NM_001353921.2(ARHGEF9):c.946-19C>A rs1159447904 0.00001
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=) rs141158169 0.00001
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=) rs1556347447 0.00001
NM_001184880.2(PCDH19):c.1002C>T (p.Val334=) rs945213958
NM_001184880.2(PCDH19):c.1029G>T (p.Pro343=)
NM_001184880.2(PCDH19):c.1041C>T (p.Asn347=) rs1182490407
NM_001184880.2(PCDH19):c.1045C>T (p.Leu349=)
NM_001184880.2(PCDH19):c.1056C>T (p.Asn352=) rs2147539781
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
NM_001184880.2(PCDH19):c.1095C>T (p.Gly365=) rs926688509
NM_001184880.2(PCDH19):c.1101G>A (p.Val367=)
NM_001184880.2(PCDH19):c.1110G>A (p.Leu370=)
NM_001184880.2(PCDH19):c.1116G>A (p.Arg372=)
NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=)
NM_001184880.2(PCDH19):c.1165C>T (p.Leu389=)
NM_001184880.2(PCDH19):c.1176G>T (p.Val392=) rs1602636583
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.2(PCDH19):c.1188G>T (p.Leu396=)
NM_001184880.2(PCDH19):c.1263C>T (p.Leu421=)
NM_001184880.2(PCDH19):c.1284C>A (p.Gly428=)
NM_001184880.2(PCDH19):c.12C>T (p.Leu4=) rs1272402084
NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=)
NM_001184880.2(PCDH19):c.1353G>T (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1371C>T (p.Tyr457=)
NM_001184880.2(PCDH19):c.13C>T (p.Leu5=)
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.1440C>T (p.Pro480=) rs1928386353
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=) rs1602636091
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=)
NM_001184880.2(PCDH19):c.1455C>T (p.Asn485=) rs2147538708
NM_001184880.2(PCDH19):c.1485G>T (p.Ser495=)
NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=)
NM_001184880.2(PCDH19):c.1518C>A (p.Val506=)
NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=)
NM_001184880.2(PCDH19):c.1581G>A (p.Lys527=)
NM_001184880.2(PCDH19):c.1620T>C (p.Leu540=)
NM_001184880.2(PCDH19):c.1641T>C (p.Ala547=) rs2147538281
NM_001184880.2(PCDH19):c.1644G>C (p.Thr548=)
NM_001184880.2(PCDH19):c.1656C>T (p.Ile552=) rs779051005
NM_001184880.2(PCDH19):c.1659C>T (p.Ile553=)
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.2(PCDH19):c.1662C>G (p.Leu554=)
NM_001184880.2(PCDH19):c.1702C>T (p.Leu568=)
NM_001184880.2(PCDH19):c.1710C>T (p.Asn570=)
NM_001184880.2(PCDH19):c.1716T>A (p.Thr572=)
NM_001184880.2(PCDH19):c.1719C>G (p.Ala573=)
NM_001184880.2(PCDH19):c.1719C>T (p.Ala573=)
NM_001184880.2(PCDH19):c.1722G>A (p.Glu574=) rs767824461
NM_001184880.2(PCDH19):c.1737C>A (p.Arg579=)
NM_001184880.2(PCDH19):c.1776A>T (p.Ala592=) rs2147537845
NM_001184880.2(PCDH19):c.177A>C (p.Ser59=) rs1466130318
NM_001184880.2(PCDH19):c.1785C>T (p.Tyr595=)
NM_001184880.2(PCDH19):c.1803C>T (p.Gly601=)
NM_001184880.2(PCDH19):c.1804C>A (p.Arg602=)
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=) rs756311067
NM_001184880.2(PCDH19):c.1887C>T (p.Thr629=)
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=) rs796052791
NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=)
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=) rs1602635297
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=)
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)
NM_001184880.2(PCDH19):c.1974C>G (p.Val658=)
NM_001184880.2(PCDH19):c.1975C>T (p.Leu659=)
NM_001184880.2(PCDH19):c.1992T>G (p.Pro664=)
NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=)
NM_001184880.2(PCDH19):c.2025G>A (p.Val675=) rs2147537254
NM_001184880.2(PCDH19):c.2029T>C (p.Leu677=) rs2147537247
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.2(PCDH19):c.2052C>G (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2082A>T (p.Val694=)
NM_001184880.2(PCDH19):c.210C>T (p.His70=)
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=) rs950694232
NM_001184880.2(PCDH19):c.2147+12T>C
NM_001184880.2(PCDH19):c.2175C>T (p.Leu725=) rs777049971
NM_001184880.2(PCDH19):c.2181T>C (p.Cys727=) rs2147534431
NM_001184880.2(PCDH19):c.21G>C (p.Pro7=) rs1345525424
NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=) rs2147534303
NM_001184880.2(PCDH19):c.2288+16C>T
NM_001184880.2(PCDH19):c.2288+9G>C
NM_001184880.2(PCDH19):c.2289-4A>G rs2147533541
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=) rs1057524610
NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=)
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn) rs765066118
NM_001184880.2(PCDH19):c.231C>T (p.Ser77=) rs2147542388
NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=)
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=)
NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=)
NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=)
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=) rs200756110
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=) rs1602632552
NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=)
NM_001184880.2(PCDH19):c.2499G>A (p.Leu833=) rs2147533161
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)
NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=)
NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=)
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=) rs2147533082
NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=) rs1480768621
NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=) rs1480768621
NM_001184880.2(PCDH19):c.2617-19T>A
NM_001184880.2(PCDH19):c.2617-19T>C
NM_001184880.2(PCDH19):c.2646C>T (p.Tyr882=)
NM_001184880.2(PCDH19):c.2675+7T>C rs1926541351
NM_001184880.2(PCDH19):c.2676-11C>T
NM_001184880.2(PCDH19):c.2676-17T>C
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) rs754570811
NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=)
NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=)
NM_001184880.2(PCDH19):c.2848+7A>G
NM_001184880.2(PCDH19):c.2979G>C (p.Leu993=)
NM_001184880.2(PCDH19):c.3051C>T (p.Thr1017=) rs1283188999
NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=)
NM_001184880.2(PCDH19):c.3075C>T (p.His1025=)
NM_001184880.2(PCDH19):c.3096C>T (p.Thr1032=)
NM_001184880.2(PCDH19):c.309C>T (p.Leu103=)
NM_001184880.2(PCDH19):c.30G>A (p.Leu10=) rs2147542972
NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=) rs2147446077
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=) rs2147446027
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=)
NM_001184880.2(PCDH19):c.31C>T (p.Leu11=) rs775517393
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3219C>T (p.Ser1073=)
NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=)
NM_001184880.2(PCDH19):c.3300T>C (p.Asn1100=)
NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=)
NM_001184880.2(PCDH19):c.336C>T (p.Ile112=)
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=) rs1555972516
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser) rs760947009
NM_001184880.2(PCDH19):c.378G>A (p.Ala126=)
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=) rs776584913
NM_001184880.2(PCDH19):c.474A>G (p.Ser158=)
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.540G>T (p.Thr180=)
NM_001184880.2(PCDH19):c.567A>G (p.Glu189=)
NM_001184880.2(PCDH19):c.570C>G (p.Leu190=)
NM_001184880.2(PCDH19):c.573G>A (p.Val191=)
NM_001184880.2(PCDH19):c.594C>A (p.Arg198=)
NM_001184880.2(PCDH19):c.606G>A (p.Ser202=)
NM_001184880.2(PCDH19):c.60C>T (p.Ala20=) rs2147542847
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)
NM_001184880.2(PCDH19):c.636C>T (p.Asp212=)
NM_001184880.2(PCDH19):c.648G>A (p.Pro216=) rs996601558
NM_001184880.2(PCDH19):c.678C>T (p.Ile226=)
NM_001184880.2(PCDH19):c.681G>A (p.Lys227=)
NM_001184880.2(PCDH19):c.687C>T (p.Thr229=) rs1380357181
NM_001184880.2(PCDH19):c.735G>A (p.Val245=)
NM_001184880.2(PCDH19):c.765A>G (p.Thr255=) rs2147540684
NM_001184880.2(PCDH19):c.783C>T (p.Asn261=) rs1928431100
NM_001184880.2(PCDH19):c.795A>T (p.Pro265=) rs1602637247
NM_001184880.2(PCDH19):c.804C>T (p.Gly268=)
NM_001184880.2(PCDH19):c.810C>T (p.Asn270=) rs2147540518
NM_001184880.2(PCDH19):c.831C>T (p.Phe277=)
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=)
NM_001184880.2(PCDH19):c.864C>G (p.Leu288=) rs750350919
NM_001184880.2(PCDH19):c.873C>A (p.Ile291=)
NM_001184880.2(PCDH19):c.879G>C (p.Pro293=)
NM_001184880.2(PCDH19):c.882C>T (p.His294=) rs2147540267
NM_001184880.2(PCDH19):c.891G>A (p.Leu297=)
NM_001184880.2(PCDH19):c.930C>T (p.His310=)
NM_001184880.2(PCDH19):c.957G>A (p.Lys319=)
NM_001184880.2(PCDH19):c.966G>A (p.Gly322=)
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=) rs2049510920
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=) rs370689173
NM_001353921.2(ARHGEF9):c.1077+10C>T
NM_001353921.2(ARHGEF9):c.1077+18T>C
NM_001353921.2(ARHGEF9):c.1077+19T>G rs2147265464
NM_001353921.2(ARHGEF9):c.1077+7C>G rs2147265578
NM_001353921.2(ARHGEF9):c.1078-13C>T
NM_001353921.2(ARHGEF9):c.1078-18C>A
NM_001353921.2(ARHGEF9):c.1078-18C>T rs781901799
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn) rs2048829340
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=) rs2147218180
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=) rs2147624145
NM_001353921.2(ARHGEF9):c.1321+18A>G
NM_001353921.2(ARHGEF9):c.1322-10T>C rs2147143891
NM_001353921.2(ARHGEF9):c.1390+13C>T
NM_001353921.2(ARHGEF9):c.1391-14C>A
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=) rs374753195
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile) rs2147114206
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu) rs2147114173
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys) rs781823638
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=) rs1602577401
NM_001353921.2(ARHGEF9):c.211-13C>A
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=) rs868932053
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=) rs2147508633
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=) rs1413001108
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
NM_001353921.2(ARHGEF9):c.30+9A>C rs2147835548
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
NM_001353921.2(ARHGEF9):c.31-29577C>T
NM_001353921.2(ARHGEF9):c.31-29579C>T
NM_001353921.2(ARHGEF9):c.31-5C>T
NM_001353921.2(ARHGEF9):c.31-6C>T
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=) rs2147507989
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
NM_001353921.2(ARHGEF9):c.402+15T>C rs2147507524
NM_001353921.2(ARHGEF9):c.402+20T>C
NM_001353921.2(ARHGEF9):c.402+8T>C
NM_001353921.2(ARHGEF9):c.403-12C>G
NM_001353921.2(ARHGEF9):c.403-17T>C
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=) rs2147451122
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=) rs782187939
NM_001353921.2(ARHGEF9):c.582+10T>A
NM_001353921.2(ARHGEF9):c.582+10_582+14del rs1556388923
NM_001353921.2(ARHGEF9):c.582+18T>C
NM_001353921.2(ARHGEF9):c.583-11dup rs782366734
NM_001353921.2(ARHGEF9):c.583-17T>G rs2147334936
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=) rs2147334626
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=) rs369716500
NM_001353921.2(ARHGEF9):c.815+10C>T
NM_001353921.2(ARHGEF9):c.815+18T>C
NM_001353921.2(ARHGEF9):c.815+8A>G rs1464003224
NM_001353921.2(ARHGEF9):c.815+8A>T rs1464003224
NM_001353921.2(ARHGEF9):c.816-10G>A
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=) rs1135401795
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=) rs782362648
NM_001353921.2(ARHGEF9):c.946-13A>C
NM_001353921.2(ARHGEF9):c.946-17T>A
NM_001353921.2(ARHGEF9):c.946-18A>G

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