ClinVar Miner

List of variants reported as uncertain significance for X-linked complex neurodevelopmental disorder by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 561
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) rs782577519 0.00015
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363 0.00013
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser) rs766355858 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.2522G>A (p.Arg841His) rs756818874 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.2480G>A (p.Arg827His) rs371323886 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.2125G>C (p.Glu709Gln) rs983417935 0.00003
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe) rs756871980 0.00003
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn) rs796052824 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_001353921.2(ARHGEF9):c.261G>T (p.Gln87His) rs373001354 0.00003
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys) rs782166488 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.2234T>C (p.Ile745Thr) rs369703205 0.00002
NM_001184880.2(PCDH19):c.2250C>A (p.Asp750Glu) rs778640450 0.00002
NM_001184880.2(PCDH19):c.2264A>C (p.Glu755Ala) rs754791297 0.00002
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln) rs886042264 0.00002
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser) rs781315243 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_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val) rs377326713 0.00002
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln) rs782087438 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.2252A>G (p.Lys751Arg) rs1159118052 0.00001
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125 0.00001
NM_001184880.2(PCDH19):c.2381A>C (p.Glu794Ala) rs1226080727 0.00001
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337 0.00001
NM_001184880.2(PCDH19):c.2401G>A (p.Val801Ile) rs973886559 0.00001
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928 0.00001
NM_001184880.2(PCDH19):c.2477G>A (p.Arg826His) rs1490663128 0.00001
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly) rs773732791 0.00001
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp) rs1284670769 0.00001
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu) rs199634316 0.00001
NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys) rs1928219474 0.00001
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg) rs1329841061 0.00001
NM_001184880.2(PCDH19):c.2572C>T (p.Pro858Ser) rs1425103514 0.00001
NM_001184880.2(PCDH19):c.2616+3G>A rs1276499316 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.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
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His) rs1556347347 0.00001
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile) rs1556347281 0.00001
NM_001353921.2(ARHGEF9):c.1078-3T>C rs1409374479 0.00001
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln) rs1556335112 0.00001
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu) rs782206262 0.00001
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320 0.00001
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr) rs1556301016 0.00001
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu) rs1556402117 0.00001
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp) rs1556401755 0.00001
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) rs782001294 0.00001
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg) rs782145415 0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886 0.00001
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys) rs781955551 0.00001
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile) rs1556415925 0.00001
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) rs782139620 0.00001
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His) rs1556365349 0.00001
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn) rs782266558 0.00001
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr) rs1569491711 0.00001
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser) rs1431530716 0.00001
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln) rs782244025 0.00001
NC_000023.10:g.(?_62857908)_(64196257_?)dup
NC_000023.10:g.(?_62893898)_(63005025_?)dup
NC_000023.10:g.(?_99551255)_(99926004_?)dup
NC_000023.10:g.(?_99551275)_(101097764_?)dup
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.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.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.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.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.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.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.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.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.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.2230C>T (p.Pro744Ser)
NM_001184880.2(PCDH19):c.2239G>A (p.Glu747Lys) rs1407091251
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2258C>A (p.Thr753Lys)
NM_001184880.2(PCDH19):c.2260G>A (p.Glu754Lys)
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2274C>A (p.Ser758Arg) rs1928258437
NM_001184880.2(PCDH19):c.2288+6A>G rs948910239
NM_001184880.2(PCDH19):c.2289-2A>G rs1928233784
NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro)
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile)
NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His)
NM_001184880.2(PCDH19):c.2360G>T (p.Arg787Leu) rs371839798
NM_001184880.2(PCDH19):c.2380GAG[1] (p.Glu795del)
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly) rs1226080727
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile) rs1928228798
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu) rs2147533341
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)
NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile) rs2147533269
NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser)
NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His)
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys) rs914370738
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp) rs1928222467
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg) rs1602632480
NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp)
NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala)
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu) rs756818874
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg) rs1928470713
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu) rs924686008
NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu)
NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His) rs2147532962
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu)
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.2974G>A (p.Ala992Thr)
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.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.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.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.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.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.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.784G>T (p.Ala262Ser)
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
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.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)
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys) rs2147265726
NM_001353921.2(ARHGEF9):c.1077+5C>T rs2049507995
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup) rs2048830256
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg) rs2048827604
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val) rs2048826532
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser) rs2147218280
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn) rs2048824581
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val) rs2053845797
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu) rs1569441733
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
NM_001353921.2(ARHGEF9):c.1321+5G>T
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val) rs2147143865
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu) rs2147143845
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=) rs1602179094
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser) rs2147114917
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly)
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys) rs1556301404
NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser) rs2147114796
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro) rs1556301359
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser) rs2147114604
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp) rs2053844904
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu) rs2147114173
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp) rs2147114132
NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu) rs1556300785
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter) rs1556300769
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His) rs1556300759
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu) rs2047401810
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His) rs374489713
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val) rs2147835608
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met)
NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg)
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser) rs886044863
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
NM_001353921.2(ARHGEF9):c.30+16C>T
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
NM_001353921.2(ARHGEF9):c.31-29588A>G rs2055839126
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del rs782126971
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu) rs2052542875
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met) rs2053850779
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) rs868956996
NM_001353921.2(ARHGEF9):c.403-3C>T rs1602447219
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe) rs2051815541
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val) rs2147450532
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser) rs2051812917
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly) rs1556388997
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val) rs2147334711
NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) rs2050412325
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=) rs2147624503
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys) rs2147334395
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu) rs2050408893
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr) rs782266558
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr)
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His)
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro) rs1602360899
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile)
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr) rs2050403490
NM_001353921.2(ARHGEF9):c.815+5G>C rs56239759
NM_001353921.2(ARHGEF9):c.815+5G>T rs56239759
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) rs2050115619
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala) rs2147307964
NM_001353921.2(ARHGEF9):c.945+5G>A
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)
NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) rs1569451962

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.