ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 400
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363 0.00013
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369 0.00012
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00009
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435 0.00009
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553 0.00007
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005 0.00006
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631 0.00006
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318 0.00005
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) rs1325807867 0.00005
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His) rs368872920 0.00005
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249 0.00005
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666 0.00005
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile) rs755456420 0.00004
NM_001184880.2(PCDH19):c.1841T>G (p.Phe614Cys) rs759085956 0.00004
NM_001184880.2(PCDH19):c.2176G>A (p.Gly726Ser) rs771012472 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150 0.00004
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295 0.00003
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935 0.00003
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147 0.00003
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser) rs371028786 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368 0.00003
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys) rs775309866 0.00003
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) rs746891808 0.00002
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773 0.00002
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) rs200637767 0.00002
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val) rs796052818 0.00002
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His) rs373996202 0.00002
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823 0.00002
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly) rs369379155 0.00002
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp) rs1309638639 0.00002
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys) rs1602567417 0.00002
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899 0.00002
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730 0.00002
NM_001184880.2(PCDH19):c.593G>A (p.Arg198His) rs772837341 0.00002
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964 0.00002
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His) rs749526030 0.00002
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338 0.00002
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr) rs755904886 0.00001
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) rs1318908420 0.00001
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359 0.00001
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) rs1413596219 0.00001
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser) rs775774922 0.00001
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=) rs1602636492 0.00001
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829 0.00001
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe) rs751977016 0.00001
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045 0.00001
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr) rs778072039 0.00001
NM_001184880.2(PCDH19):c.1722G>C (p.Glu574Asp) rs767824461 0.00001
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) rs763798306 0.00001
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala) rs1029866851 0.00001
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His) rs1361535008 0.00001
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) rs1928354837 0.00001
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val) rs749714492 0.00001
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu) rs1382149285 0.00001
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys) rs1285138683 0.00001
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met) rs746945279 0.00001
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591 0.00001
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) rs778668005 0.00001
NM_001184880.2(PCDH19):c.2672A>G (p.Lys891Arg) rs1602600451 0.00001
NM_001184880.2(PCDH19):c.2676-10T>G rs1469998949 0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914 0.00001
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) rs752763816 0.00001
NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile) rs370150093 0.00001
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile) rs772106217 0.00001
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080 0.00001
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser) rs983140182 0.00001
NM_001184880.2(PCDH19):c.292A>C (p.Lys98Gln) rs372702479 0.00001
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838 0.00001
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro) rs1387075416 0.00001
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171 0.00001
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793 0.00001
NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile) rs1452527533 0.00001
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln) rs1241637351 0.00001
NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu) rs1285095488 0.00001
NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser) rs764781288 0.00001
NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met) rs774791898 0.00001
NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr) rs769890364 0.00001
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His) rs770137596 0.00001
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) rs1057520343 0.00001
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203 0.00001
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535 0.00001
NM_001184880.2(PCDH19):c.505A>T (p.Thr169Ser) rs1413443418 0.00001
NM_001184880.2(PCDH19):c.544G>C (p.Gly182Arg) rs777840773 0.00001
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282 0.00001
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly) rs1339944196 0.00001
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298 0.00001
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808 0.00001
NM_001184880.2(PCDH19):c.722C>A (p.Ser241Tyr) rs1004810913 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr) rs2147539946
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) rs1928413482
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro) rs2147542686
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) rs868697675
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp) rs2147539716
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val) rs776497186
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys) rs1928409253
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr) rs1928407939
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val) rs1928404497
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) rs1928402131
NM_001184880.2(PCDH19):c.122A>G (p.Asn41Ser) rs2147542647
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
NM_001184880.2(PCDH19):c.1238G>C (p.Arg413Pro) rs2147539292
NM_001184880.2(PCDH19):c.1250A>T (p.Asp417Val) rs2147539257
NM_001184880.2(PCDH19):c.1252C>A (p.Gln418Lys)
NM_001184880.2(PCDH19):c.1252C>G (p.Gln418Glu)
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys) rs1928399359
NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn)
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.1313C>A (p.Ser438Tyr)
NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile)
NM_001184880.2(PCDH19):c.1321G>T (p.Val441Leu)
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro) rs2147539030
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
NM_001184880.2(PCDH19):c.1360_1361delinsAA (p.Ser454Asn) rs2147538982
NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg)
NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser)
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn)
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys) rs1928392499
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
NM_001184880.2(PCDH19):c.1430C>A (p.Ala477Asp)
NM_001184880.2(PCDH19):c.1430C>T (p.Ala477Val)
NM_001184880.2(PCDH19):c.1432C>T (p.Arg478Cys)
NM_001184880.2(PCDH19):c.1438C>T (p.Pro480Ser) rs201320371
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu) rs1602636091
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
NM_001184880.2(PCDH19):c.1456G>C (p.Gly486Arg)
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=) rs1602636047
NM_001184880.2(PCDH19):c.145G>A (p.Ala49Thr)
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1481C>G (p.Pro494Arg)
NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu)
NM_001184880.2(PCDH19):c.1483T>C (p.Ser495Pro) rs2147538640
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His) rs2147538625
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys) rs1928382143
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser) rs1928381502
NM_001184880.2(PCDH19):c.1538G>A (p.Gly513Asp) rs1928380918
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val) rs1928380918
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
NM_001184880.2(PCDH19):c.155C>T (p.Ala52Val) rs2147542586
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro) rs1928379105
NM_001184880.2(PCDH19):c.1569C>A (p.His523Gln)
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn)
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro)
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu) rs766582540
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)
NM_001184880.2(PCDH19):c.1628T>C (p.Leu543Pro)
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe) rs1928375319
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met) rs761718877
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg) rs1928476240
NM_001184880.2(PCDH19):c.1652T>A (p.Val551Asp) rs1928373723
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) rs1928373723
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser) rs1928372472
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp) rs2147538146
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln) rs1928475827
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala) rs1928370474
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser) rs951696281
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn) rs1928365978
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del) rs1928365074
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala) rs1928365372
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn) rs1928364873
NM_001184880.2(PCDH19):c.1816G>T (p.Asp606Tyr) rs1928364873
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly) rs2147537779
NM_001184880.2(PCDH19):c.1823C>T (p.Thr608Ile)
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.1862A>G (p.Asn621Ser)
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val) rs1928362026
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) rs750599959
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met) rs1221643775
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe) rs2147537323
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val) rs2147537309
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp) rs868762744
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val) rs1928473737
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr) rs2147537200
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg)
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
NM_001184880.2(PCDH19):c.2148-8C>T
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met) rs1928262563
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=)
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu) rs1335592289
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg) rs1928470713
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr) rs747735300
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) rs1602600456
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn) rs1602600445
NM_001184880.2(PCDH19):c.2676-8C>A rs1174620986
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp) rs1926264482
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser) rs1926262402
NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr)
NM_001184880.2(PCDH19):c.2833C>T (p.Gln945Ter) rs2147484924
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2837T>C (p.Met946Thr)
NM_001184880.2(PCDH19):c.2846A>C (p.His949Pro) rs1200510047
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln)
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val) rs2147446474
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) rs2147542235
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
NM_001184880.2(PCDH19):c.2983A>G (p.Ile995Val) rs1413490920
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del) rs796052825
NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly) rs1924624840
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3019G>A (p.Asp1007Asn)
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala)
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3025G>A (p.Gly1009Ser) rs2147446230
NM_001184880.2(PCDH19):c.3028C>T (p.Pro1010Ser)
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp) rs376406896
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr) rs1327141854
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser)
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr) rs2147446139
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser) rs2147446085
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile) rs2147446072
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile)
NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe)
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp) rs2147445892
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu) rs774791898
NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln)
NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys) rs2147445718
NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser) rs754499060
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser) rs763455091
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val) rs2147445596
NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile)
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter) rs2147445563
NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val)
NM_001184880.2(PCDH19):c.335T>G (p.Ile112Ser) rs2147542128
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu) rs1924601817
NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met) rs1924600376
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp)
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu) rs1456843420
NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg)
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup) rs1924597346
NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs) rs1924597176
NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs) rs764067138
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu) rs138771033
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys) rs1928464417
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn) rs1214373921
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr)
NM_001184880.2(PCDH19):c.380C>T (p.Pro127Leu) rs2147542030
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser) rs1602638047
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn) rs1602637994
NM_001184880.2(PCDH19):c.418G>C (p.Glu140Gln)
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly) rs1928460473
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys) rs796052799
NM_001184880.2(PCDH19):c.439C>T (p.Arg147Cys)
NM_001184880.2(PCDH19):c.43C>A (p.Leu15Met)
NM_001184880.2(PCDH19):c.444C>G (p.Ile148Met) rs770381945
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg) rs2147541809
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del) rs1928454411
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys) rs796052803
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
NM_001184880.2(PCDH19):c.569T>C (p.Leu190Pro) rs2147541432
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val) rs1928482665
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met) rs753757730
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu) rs374554305
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys) rs2147541289
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) rs796052804
NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys) rs2147541189
NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn) rs1928444379
NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val) rs1928443396
NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val) rs935781189
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro) rs1210258504
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) rs1248114037
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del) rs1928438102
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser) rs1602637358
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)
NM_001184880.2(PCDH19):c.778C>G (p.Leu260Val)
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.79T>A (p.Tyr27Asn) rs1928481376
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del)
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser) rs1928427097
NM_001184880.2(PCDH19):c.812G>T (p.Gly271Val) rs2147540502
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys) rs1928426496
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys) rs931969825
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile) rs1928420254
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
NM_001184880.2(PCDH19):c.958G>A (p.Asp320Asn)
NM_001184880.2(PCDH19):c.958G>C (p.Asp320His) rs1928416953
NM_001184880.2(PCDH19):c.959A>G (p.Asp320Gly)
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser) rs1928416253
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)

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