ClinVar Miner

List of variants in gene PIGA studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp) rs34422225 0.03093
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg) rs61760986 0.00153
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_002641.4(PIGA):c.273C>T (p.Tyr91=) rs61730284 0.00020
NM_002641.4(PIGA):c.716-10A>G rs375371562 0.00013
NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp) rs772225061 0.00012
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val) rs201361742 0.00010
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys) rs761613346 0.00010
NM_002641.4(PIGA):c.1188G>A (p.Lys396=) rs754561270 0.00008
NM_002641.4(PIGA):c.384T>C (p.His128=) rs750216116 0.00007
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly) rs375401655 0.00007
NM_002641.4(PIGA):c.908A>C (p.His303Pro) rs139991272 0.00005
NM_002641.4(PIGA):c.96C>G (p.Thr32=) rs750555194 0.00005
NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr) rs774546648 0.00004
NM_002641.4(PIGA):c.198G>A (p.Lys66=) rs762748091 0.00004
NM_002641.4(PIGA):c.456G>A (p.Thr152=) rs776453997 0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu) rs202161781 0.00004
NM_002641.4(PIGA):c.981+8G>A rs778602062 0.00004
NM_002641.4(PIGA):c.982-3A>C rs370316738 0.00004
NM_002641.4(PIGA):c.120C>T (p.Asp40=) rs200475470 0.00003
NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp) rs752798208 0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val) rs142772459 0.00003
NM_002641.4(PIGA):c.1422G>A (p.Gly474=) rs1381482858 0.00003
NM_002641.4(PIGA):c.286G>C (p.Val96Leu) rs146801580 0.00003
NM_002641.4(PIGA):c.924C>T (p.Thr308=) rs144162396 0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His) rs758863767 0.00003
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr) rs768749706 0.00002
NM_002641.4(PIGA):c.1188+4T>C rs751261624 0.00002
NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln) rs1921825509 0.00002
NM_002641.4(PIGA):c.1222C>T (p.Pro408Ser) rs1314103115 0.00002
NM_002641.4(PIGA):c.1240G>C (p.Asp414His) rs768524297 0.00002
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln) rs769061128 0.00002
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr) rs777795093 0.00002
NM_002641.4(PIGA):c.369G>A (p.Thr123=) rs766304305 0.00002
NM_002641.4(PIGA):c.438G>C (p.Gly146=) rs143565005 0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) rs369608621 0.00002
NM_002641.4(PIGA):c.517G>A (p.Val173Met) rs752395232 0.00002
NM_002641.4(PIGA):c.616A>G (p.Ile206Val) rs201119959 0.00002
NM_002641.4(PIGA):c.657A>G (p.Pro219=) rs1217291446 0.00002
NM_002641.4(PIGA):c.715+5T>C rs762891698 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly) rs1174537633 0.00001
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) rs781095752 0.00001
NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala) rs192475811 0.00001
NM_002641.4(PIGA):c.1255C>T (p.His419Tyr) rs746591138 0.00001
NM_002641.4(PIGA):c.1308C>T (p.Phe436=) rs778444082 0.00001
NM_002641.4(PIGA):c.1338T>A (p.Thr446=) rs1437471008 0.00001
NM_002641.4(PIGA):c.1368T>C (p.Asp456=) rs761116405 0.00001
NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr) rs773189052 0.00001
NM_002641.4(PIGA):c.1419A>G (p.Arg473=) rs776651457 0.00001
NM_002641.4(PIGA):c.1427A>G (p.Glu476Gly) rs775330646 0.00001
NM_002641.4(PIGA):c.1447A>G (p.Thr483Ala) rs745560847 0.00001
NM_002641.4(PIGA):c.182T>C (p.Ile61Thr) rs1006798135 0.00001
NM_002641.4(PIGA):c.232A>G (p.Lys78Glu) rs776182358 0.00001
NM_002641.4(PIGA):c.247C>G (p.Leu83Val) rs1335237092 0.00001
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala) rs768321389 0.00001
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys) rs1445335859 0.00001
NM_002641.4(PIGA):c.300G>T (p.Gln100His) rs757482806 0.00001
NM_002641.4(PIGA):c.305C>T (p.Thr102Ile) rs754050083 0.00001
NM_002641.4(PIGA):c.35G>A (p.Arg12His) rs1380833875 0.00001
NM_002641.4(PIGA):c.400A>G (p.Met134Val) rs1922154798 0.00001
NM_002641.4(PIGA):c.459C>T (p.Asp153=) rs1922153058 0.00001
NM_002641.4(PIGA):c.48A>G (p.Thr16=) rs772936689 0.00001
NM_002641.4(PIGA):c.526T>G (p.Cys176Gly) rs371466959 0.00001
NM_002641.4(PIGA):c.761A>G (p.Tyr254Cys) rs1279450118 0.00001
NM_002641.4(PIGA):c.848+17T>C rs758986672 0.00001
NM_002641.4(PIGA):c.849-10A>G rs1413431429 0.00001
NM_002641.4(PIGA):c.854G>A (p.Arg285His) rs1569178381 0.00001
NM_002641.4(PIGA):c.873A>G (p.Glu291=) rs757121631 0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=) rs777674120 0.00001
NM_002641.4(PIGA):c.91C>T (p.Arg31Cys) rs780532806 0.00001
NM_002641.4(PIGA):c.981+5A>G rs994376694 0.00001
NM_002641.4(PIGA):c.981+9C>T rs377014685 0.00001
NC_000023.10:g.(?_15349318)_(15353655_?)dup
NC_000023.11:g.(?_15321486)_(15335533_?)dup
NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu) rs2147717491
NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp)
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del) rs587777399
NM_002641.4(PIGA):c.1031T>G (p.Leu344Arg)
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.104T>C (p.Ile35Thr)
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
NM_002641.4(PIGA):c.1063T>A (p.Leu355Met)
NM_002641.4(PIGA):c.1065G>T (p.Leu355Phe)
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
NM_002641.4(PIGA):c.1095A>G (p.Gln365=) rs1555944375
NM_002641.4(PIGA):c.112G>A (p.Val38Ile) rs1555945533
NM_002641.4(PIGA):c.1131C>G (p.Ile377Met) rs2147717377
NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del) rs1921919751
NM_002641.4(PIGA):c.1135A>G (p.Asn379Asp)
NM_002641.4(PIGA):c.1143A>G (p.Val381=)
NM_002641.4(PIGA):c.1149T>C (p.Thr383=)
NM_002641.4(PIGA):c.1159T>A (p.Trp387Arg) rs2147717335
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly) rs1921917016
NM_002641.4(PIGA):c.1185A>G (p.Glu395=) rs1234870253
NM_002641.4(PIGA):c.1188+14T>A
NM_002641.4(PIGA):c.1188+20A>G
NM_002641.4(PIGA):c.1188+3A>G
NM_002641.4(PIGA):c.1189-17G>T
NM_002641.4(PIGA):c.1200G>A (p.Arg400=)
NM_002641.4(PIGA):c.1201G>A (p.Val401Ile) rs759697480
NM_002641.4(PIGA):c.1201G>C (p.Val401Leu) rs759697480
NM_002641.4(PIGA):c.1213G>C (p.Ala405Pro)
NM_002641.4(PIGA):c.1219T>C (p.Leu407=)
NM_002641.4(PIGA):c.1225A>G (p.Met409Val) rs1921823118
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg) rs771058274
NM_002641.4(PIGA):c.1293G>A (p.Leu431=)
NM_002641.4(PIGA):c.1311C>T (p.Leu437=) rs2147714758
NM_002641.4(PIGA):c.1315C>G (p.Leu439Val) rs2147714748
NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)
NM_002641.4(PIGA):c.132A>G (p.Pro44=)
NM_002641.4(PIGA):c.1348A>G (p.Ile450Val)
NM_002641.4(PIGA):c.1350C>T (p.Ile450=)
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn) rs1921817809
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1363A>G (p.Ile455Val)
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_002641.4(PIGA):c.1386T>C (p.Gly462=)
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
NM_002641.4(PIGA):c.1433A>G (p.Asn478Ser)
NM_002641.4(PIGA):c.144C>T (p.Gly48=) rs1922168318
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.154C>T (p.His52Tyr)
NM_002641.4(PIGA):c.166C>G (p.Leu56Val) rs1602212318
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr) rs1602212285
NM_002641.4(PIGA):c.19G>A (p.Ala7Thr) rs1922178646
NM_002641.4(PIGA):c.1A>G (p.Met1Val) rs1922179572
NM_002641.4(PIGA):c.215A>G (p.His72Arg) rs1922164501
NM_002641.4(PIGA):c.216T>C (p.His72=)
NM_002641.4(PIGA):c.227A>G (p.Asn76Ser) rs2147723949
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu) rs587777398
NM_002641.4(PIGA):c.236G>A (p.Gly79Asp) rs2147723922
NM_002641.4(PIGA):c.238A>G (p.Ile80Val) rs1922163411
NM_002641.4(PIGA):c.23G>A (p.Gly8Glu) rs1602212451
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.252C>T (p.Thr84=)
NM_002641.4(PIGA):c.263A>G (p.Lys88Arg)
NM_002641.4(PIGA):c.268T>C (p.Tyr90His)
NM_002641.4(PIGA):c.26A>G (p.Asn9Ser) rs1922178080
NM_002641.4(PIGA):c.272A>G (p.Tyr91Cys)
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu) rs587777400
NM_002641.4(PIGA):c.281T>C (p.Leu94Pro) rs1922159995
NM_002641.4(PIGA):c.289A>C (p.Met97Leu)
NM_002641.4(PIGA):c.291G>T (p.Met97Ile)
NM_002641.4(PIGA):c.296A>G (p.Asn99Ser)
NM_002641.4(PIGA):c.29G>A (p.Gly10Asp) rs1602212448
NM_002641.4(PIGA):c.300G>A (p.Gln100=) rs757482806
NM_002641.4(PIGA):c.301T>G (p.Ser101Ala)
NM_002641.4(PIGA):c.304A>G (p.Thr102Ala)
NM_002641.4(PIGA):c.317T>C (p.Leu106Pro)
NM_002641.4(PIGA):c.322C>A (p.His108Asn) rs1922156380
NM_002641.4(PIGA):c.328C>G (p.Leu110Val)
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
NM_002641.4(PIGA):c.332C>T (p.Pro111Leu) rs2147723769
NM_002641.4(PIGA):c.339C>G (p.Leu113=)
NM_002641.4(PIGA):c.342G>C (p.Arg114Ser)
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser) rs1569180012
NM_002641.4(PIGA):c.348A>G (p.Ile116Met) rs1555945484
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.371T>A (p.Ile124Lys)
NM_002641.4(PIGA):c.387T>C (p.Ser129=) rs2147723733
NM_002641.4(PIGA):c.390T>C (p.Ser130=) rs2147723729
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) rs1922155142
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_002641.4(PIGA):c.399T>C (p.Ala133=) rs2147723722
NM_002641.4(PIGA):c.407A>G (p.His136Arg) rs1602212104
NM_002641.4(PIGA):c.417C>T (p.Leu139=) rs2147723711
NM_002641.4(PIGA):c.420C>T (p.Phe140=) rs760682734
NM_002641.4(PIGA):c.423C>T (p.His141=)
NM_002641.4(PIGA):c.424G>A (p.Ala142Thr) rs1569179995
NM_002641.4(PIGA):c.430A>T (p.Thr144Ser)
NM_002641.4(PIGA):c.433A>G (p.Met145Val) rs1922153772
NM_002641.4(PIGA):c.43G>C (p.Ala15Pro) rs369608621
NM_002641.4(PIGA):c.441T>C (p.Leu147=) rs2147723672
NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)
NM_002641.4(PIGA):c.446C>T (p.Thr149Ile)
NM_002641.4(PIGA):c.447A>G (p.Thr149=)
NM_002641.4(PIGA):c.47C>T (p.Thr16Ile) rs1922176302
NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr) rs1569179975
NM_002641.4(PIGA):c.49C>T (p.Leu17Phe)
NM_002641.4(PIGA):c.4G>A (p.Ala2Thr)
NM_002641.4(PIGA):c.514A>G (p.Thr172Ala) rs375707235
NM_002641.4(PIGA):c.530A>G (p.Asp177Gly)
NM_002641.4(PIGA):c.538C>T (p.His180Tyr) rs1922149677
NM_002641.4(PIGA):c.541A>G (p.Ile181Val)
NM_002641.4(PIGA):c.557A>G (p.Tyr186Cys)
NM_002641.4(PIGA):c.565A>G (p.Lys189Glu) rs1922149379
NM_002641.4(PIGA):c.568G>A (p.Glu190Lys) rs1922149223
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.586G>A (p.Ala196Thr)
NM_002641.4(PIGA):c.591A>G (p.Ala197=)
NM_002641.4(PIGA):c.599C>T (p.Pro200Leu) rs1922148351
NM_002641.4(PIGA):c.613G>A (p.Val205Ile) rs1064796260
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe) rs201119959
NM_002641.4(PIGA):c.62G>A (p.Ser21Asn)
NM_002641.4(PIGA):c.640G>C (p.Asp214His) rs1922147618
NM_002641.4(PIGA):c.651A>G (p.Pro217=)
NM_002641.4(PIGA):c.661A>G (p.Arg221Gly) rs1602211939
NM_002641.4(PIGA):c.671A>G (p.Asp224Gly)
NM_002641.4(PIGA):c.676A>G (p.Ile226Val) rs1922146269
NM_002641.4(PIGA):c.677T>C (p.Ile226Thr) rs2147723521
NM_002641.4(PIGA):c.680C>G (p.Thr227Ser) rs767267768
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
NM_002641.4(PIGA):c.707A>T (p.Tyr236Phe)
NM_002641.4(PIGA):c.715+18A>G
NM_002641.4(PIGA):c.715+7A>C rs1233865208
NM_002641.4(PIGA):c.721G>A (p.Asp241Asn) rs2147718542
NM_002641.4(PIGA):c.732T>C (p.Ser244=)
NM_002641.4(PIGA):c.73C>A (p.Leu25Ile)
NM_002641.4(PIGA):c.744T>G (p.Pro248=) rs2147718511
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
NM_002641.4(PIGA):c.754C>G (p.Gln252Glu) rs2147718485
NM_002641.4(PIGA):c.76dup (p.Tyr26fs) rs587777397
NM_002641.4(PIGA):c.783T>G (p.Ile261Met) rs1921959886
NM_002641.4(PIGA):c.789A>T (p.Gly263=)
NM_002641.4(PIGA):c.790G>C (p.Glu264Gln) rs755799077
NM_002641.4(PIGA):c.811T>C (p.Leu271=)
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp) rs1057524256
NM_002641.4(PIGA):c.848+15C>G
NM_002641.4(PIGA):c.848+20T>A
NM_002641.4(PIGA):c.848+20T>C
NM_002641.4(PIGA):c.849-16_849-15del rs2147717767
NM_002641.4(PIGA):c.849-20C>T
NM_002641.4(PIGA):c.852G>T (p.Val284=)
NM_002641.4(PIGA):c.853C>T (p.Arg285Cys) rs1921932909
NM_002641.4(PIGA):c.85A>G (p.Arg29Gly)
NM_002641.4(PIGA):c.864A>T (p.Gly288=)
NM_002641.4(PIGA):c.908A>G (p.His303Arg)
NM_002641.4(PIGA):c.91C>G (p.Arg31Gly)
NM_002641.4(PIGA):c.924C>G (p.Thr308=) rs144162396
NM_002641.4(PIGA):c.930T>C (p.Leu310=)
NM_002641.4(PIGA):c.954C>T (p.Ile318=) rs1353341156
NM_002641.4(PIGA):c.955G>A (p.Val319Met) rs765961204
NM_002641.4(PIGA):c.960A>G (p.Glu320=)
NM_002641.4(PIGA):c.968G>A (p.Ser323Asn)
NM_002641.4(PIGA):c.981+11T>A
NM_002641.4(PIGA):c.981+4A>G rs1921929282
NM_002641.4(PIGA):c.982-17CTTT[2] rs763470538
NM_002641.4(PIGA):c.982-4T>A rs1555944399
NM_002641.4(PIGA):c.982-4T>G rs1555944399
NM_002641.4(PIGA):c.982-9C>G
NM_002641.4(PIGA):c.982-9del rs1555944408
NM_002641.4(PIGA):c.984T>C (p.Val328=) rs2147717510
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924

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