ClinVar Miner

List of variants in gene PCDH19 reported as likely benign for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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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.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
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_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_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_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_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_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752 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_001184880.2(PCDH19):c.1246C>A (p.His416Asn) rs778618689 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_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.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_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.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_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.1516G>A (p.Val506Ile)
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.231C>T (p.Ser77=) rs2147542388
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=)
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)
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=)

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