ClinVar Miner

List of variants in gene PCDH19 studied for Early infantile epileptic encephalopathy 9

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Gene type:
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Total variants: 181
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HGVS dbSNP
NC_000023.10:g.(?_99551255)_(99551893_?)del
NC_000023.10:g.(?_99551255)_(99597093_?)del
NC_000023.10:g.(?_99551255)_(99663615_?)del
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser)
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg)
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) rs1569314304
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg)
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly)
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His)
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg)
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2616+1G>A
NM_001184880.2(PCDH19):c.2617-1G>A
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln)
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
NM_001184880.2(PCDH19):c.2676-6A>G
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser)
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro)
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu)
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys)
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001184880.2(PCDH19):c.971del (p.Asn324fs) rs1569315169
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
PCDH19, 5-BP DUP, NT1036

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