ClinVar Miner

List of variants studied for X-linked intellectual disability-epilepsy syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
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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
NC_000023.10:g.(?_99551255)_(99926004_?)del
NM_001173479.2(ARHGEF9):c.29T>C (p.Met10Thr)
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.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.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.1355A>G (p.His452Arg) rs777851773
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
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.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.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
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.2479C>G (p.Arg827Gly) rs773732791
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.2616+1G>A
NM_001184880.2(PCDH19):c.2617-1G>A
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591
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.2813G>T (p.Ser938Ile)
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
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.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
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.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.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.670del (p.Ser225fs)
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.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
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.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) rs1569451962
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) rs756836341
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614
NM_015185.3(ARHGEF9):c.1001G>A (p.Arg334His)
NM_015185.3(ARHGEF9):c.1039A>C (p.Met347Leu) rs782248986
NM_015185.3(ARHGEF9):c.1273A>G (p.Lys425Glu) rs1569441733
NM_015185.3(ARHGEF9):c.1368A>G (p.Lys456=)
NM_015185.3(ARHGEF9):c.1381G>T (p.Ala461Ser) rs781870482
NM_015185.3(ARHGEF9):c.1399T>C (p.Ser467Pro) rs1556301359
NM_015185.3(ARHGEF9):c.1412C>T (p.Pro471Leu)
NM_015185.3(ARHGEF9):c.1444G>C (p.Val482Leu)
NM_015185.3(ARHGEF9):c.1453G>A (p.Gly485Ser) rs1365914320
NM_015185.3(ARHGEF9):c.1459G>A (p.Ala487Thr) rs1556301016
NM_015185.3(ARHGEF9):c.1515G>A (p.Trp505Ter) rs1556300769
NM_015185.3(ARHGEF9):c.233A>T (p.Asp78Val) rs377326713
NM_015185.3(ARHGEF9):c.243C>T (p.Asn81=) rs782671712
NM_015185.3(ARHGEF9):c.382-3C>T
NM_015185.3(ARHGEF9):c.421A>G (p.Ser141Gly) rs1394345886
NM_015185.3(ARHGEF9):c.430C>A (p.Gln144Lys) rs781955551
NM_015185.3(ARHGEF9):c.535G>A (p.Glu179Lys)
NM_015185.3(ARHGEF9):c.543A>G (p.Gly181=) rs782187939
NM_015185.3(ARHGEF9):c.557A>G (p.Glu186Gly) rs1556388997
NM_015185.3(ARHGEF9):c.55C>T (p.His19Tyr)
NM_015185.3(ARHGEF9):c.561+1G>A rs1569476483
NM_015185.3(ARHGEF9):c.562-11dup rs782366734
NM_015185.3(ARHGEF9):c.618G>A (p.Met206Ile)
NM_015185.3(ARHGEF9):c.646C>T (p.Arg216Cys) rs782139620
NM_015185.3(ARHGEF9):c.767T>C (p.Leu256Pro)
NM_015185.3(ARHGEF9):c.794+8A>G rs1464003224
NM_015185.3(ARHGEF9):c.865C>T (p.Arg289Ter) rs1135401795
NM_015185.3(ARHGEF9):c.901C>T (p.Gln301Ter) rs1569458475

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