ClinVar Miner

List of variants reported as uncertain significance for Epilepsy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_004204.5(PIGQ):c.1571G>A (p.Arg524Lys) rs143762913 0.00051
NM_004204.5(PIGQ):c.902G>A (p.Arg301His) rs371210440 0.00044
NM_004204.5(PIGQ):c.1117G>A (p.Val373Met) rs150887807 0.00040
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_004204.5(PIGQ):c.1579C>T (p.Arg527Cys) rs201414474 0.00025
NM_004204.5(PIGQ):c.1430T>C (p.Val477Ala) rs202225619 0.00023
NM_001165963.4(SCN1A):c.*1795G>A rs189183531 0.00021
NM_004204.5(PIGQ):c.158G>A (p.Arg53Gln) rs182739177 0.00019
NM_004204.5(PIGQ):c.290G>T (p.Cys97Phe) rs78957457 0.00019
NM_004204.5(PIGQ):c.400C>T (p.Arg134Cys) rs199780849 0.00019
NM_004204.5(PIGQ):c.466A>G (p.Thr156Ala) rs761546913 0.00018
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_004204.5(PIGQ):c.335G>A (p.Arg112Gln) rs200272055 0.00016
NM_004204.5(PIGQ):c.355G>A (p.Gly119Ser) rs146122020 0.00016
NM_004204.5(PIGQ):c.833C>T (p.Thr278Met) rs370004325 0.00016
NM_001165963.4(SCN1A):c.*129T>G rs886055040 0.00015
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_004204.5(PIGQ):c.1685G>A (p.Arg562His) rs372069327 0.00014
NM_004204.5(PIGQ):c.476C>T (p.Thr159Met) rs377253487 0.00014
NM_004204.5(PIGQ):c.821+3G>A rs199735408 0.00014
NM_004204.5(PIGQ):c.1173T>G (p.Ile391Met) rs772434140 0.00013
NM_004204.5(PIGQ):c.928G>A (p.Val310Ile) rs137907943 0.00012
NM_001165963.4(SCN1A):c.*1989C>T rs371391758 0.00011
NM_001165963.4(SCN1A):c.*460A>C rs746164130 0.00011
NM_004204.5(PIGQ):c.946G>A (p.Val316Met) rs1441077523 0.00011
NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser) rs760734408 0.00010
NM_004204.5(PIGQ):c.1675G>A (p.Ala559Thr) rs202068219 0.00010
NM_004204.5(PIGQ):c.690-3C>T rs370348620 0.00010
NM_004204.5(PIGQ):c.919G>A (p.Asp307Asn) rs377584601 0.00010
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) rs148273392 0.00010
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) rs201503351 0.00009
NM_004204.5(PIGQ):c.1438G>A (p.Val480Met) rs148537594 0.00009
NM_004204.5(PIGQ):c.1151C>T (p.Ala384Val) rs201364919 0.00008
NM_004204.5(PIGQ):c.512G>A (p.Arg171His) rs775456149 0.00007
NM_001165963.4(SCN1A):c.2176+11A>C rs201604887 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_004204.5(PIGQ):c.1302G>T (p.Gln434His) rs147895518 0.00006
NM_004204.5(PIGQ):c.1514G>A (p.Arg505Gln) rs760318704 0.00006
NM_004204.5(PIGQ):c.295G>A (p.Glu99Lys) rs200383861 0.00006
NM_004204.5(PIGQ):c.530G>A (p.Arg177His) rs774945335 0.00006
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) rs372361502 0.00006
NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr) rs767785877 0.00005
NM_004204.5(PIGQ):c.682G>C (p.Ala228Pro) rs768970883 0.00005
NM_004204.5(PIGQ):c.751C>T (p.Arg251Trp) rs368598376 0.00005
NM_004204.5(PIGQ):c.1370T>G (p.Leu457Arg) rs201005406 0.00004
NM_004204.5(PIGQ):c.1417-3C>T rs199992680 0.00004
NM_004204.5(PIGQ):c.1504C>T (p.Arg502Trp) rs377161206 0.00004
NM_004204.5(PIGQ):c.215A>T (p.Glu72Val) rs771592713 0.00004
NM_004204.5(PIGQ):c.220G>A (p.Glu74Lys) rs776641714 0.00004
NM_004204.5(PIGQ):c.493G>A (p.Val165Ile) rs544941071 0.00004
NM_004204.5(PIGQ):c.874C>G (p.Leu292Val) rs150145867 0.00004
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_001165963.4(SCN1A):c.*1950G>A rs773354801 0.00003
NM_004204.5(PIGQ):c.1069A>G (p.Ser357Gly) rs914268596 0.00003
NM_004204.5(PIGQ):c.1106T>C (p.Ile369Thr) rs760367328 0.00003
NM_004204.5(PIGQ):c.1177G>A (p.Ala393Thr) rs747332120 0.00003
NM_004204.5(PIGQ):c.1336-3C>T rs1357963752 0.00003
NM_004204.5(PIGQ):c.1382C>T (p.Pro461Leu) rs771351668 0.00003
NM_004204.5(PIGQ):c.1547G>A (p.Arg516His) rs376467540 0.00003
NM_004204.5(PIGQ):c.1561G>A (p.Glu521Lys) rs766902402 0.00003
NM_004204.5(PIGQ):c.208C>T (p.Arg70Trp) rs774564687 0.00003
NM_004204.5(PIGQ):c.341C>T (p.Ala114Val) rs777579910 0.00003
NM_004204.5(PIGQ):c.448C>T (p.Arg150Cys) rs542951123 0.00003
NM_004204.5(PIGQ):c.499G>A (p.Asp167Asn) rs144825405 0.00003
NM_004204.5(PIGQ):c.539G>A (p.Arg180His) rs376046019 0.00003
NM_004204.5(PIGQ):c.634A>C (p.Ile212Leu) rs758356668 0.00003
NM_004204.5(PIGQ):c.676G>A (p.Val226Ile) rs376471933 0.00003
NM_004204.5(PIGQ):c.794A>G (p.Lys265Arg) rs375666595 0.00003
NM_004204.5(PIGQ):c.797C>T (p.Ala266Val) rs528254518 0.00003
NM_004204.5(PIGQ):c.856G>A (p.Val286Met) rs575220879 0.00003
NM_004204.5(PIGQ):c.907G>A (p.Gly303Arg) rs747818784 0.00003
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_004204.5(PIGQ):c.1011C>G (p.Asn337Lys) rs1256668223 0.00002
NM_004204.5(PIGQ):c.1036C>G (p.Arg346Gly) rs767160386 0.00002
NM_004204.5(PIGQ):c.1166C>T (p.Ser389Leu) rs1396938371 0.00002
NM_004204.5(PIGQ):c.1223+6C>T rs778074464 0.00002
NM_004204.5(PIGQ):c.1256C>T (p.Ser419Leu) rs750802445 0.00002
NM_004204.5(PIGQ):c.1306G>A (p.Val436Met) rs763106194 0.00002
NM_004204.5(PIGQ):c.1530G>A (p.Ala510=) rs369390648 0.00002
NM_004204.5(PIGQ):c.1537G>A (p.Val513Met) rs200922564 0.00002
NM_004204.5(PIGQ):c.1634G>A (p.Arg545His) rs749557732 0.00002
NM_004204.5(PIGQ):c.209G>A (p.Arg70Gln) rs747901484 0.00002
NM_004204.5(PIGQ):c.242T>C (p.Leu81Pro) rs1467620158 0.00002
NM_004204.5(PIGQ):c.334C>T (p.Arg112Trp) rs374015287 0.00002
NM_004204.5(PIGQ):c.445G>A (p.Asp149Asn) rs867573847 0.00002
NM_004204.5(PIGQ):c.529C>T (p.Arg177Cys) rs764707741 0.00002
NM_004204.5(PIGQ):c.604G>A (p.Ala202Thr) rs762452022 0.00002
NM_004204.5(PIGQ):c.613G>T (p.Ala205Ser) rs1555451827 0.00002
NM_004204.5(PIGQ):c.626C>T (p.Ser209Leu) rs764793325 0.00002
NM_004204.5(PIGQ):c.689G>A (p.Arg230Gln) rs1251694138 0.00002
NM_004204.5(PIGQ):c.819G>A (p.Met273Ile) rs746245143 0.00002
NM_001165963.4(SCN1A):c.*1121T>C rs886055034 0.00001
NM_001165963.4(SCN1A):c.*1482G>A rs886055033 0.00001
NM_001165963.4(SCN1A):c.*259T>C rs886055039 0.00001
NM_001165963.4(SCN1A):c.*912T>A rs886055036 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_004204.5(PIGQ):c.1096G>A (p.Val366Met) rs2035762945 0.00001
NM_004204.5(PIGQ):c.110A>G (p.His37Arg) rs1453234953 0.00001
NM_004204.5(PIGQ):c.1145C>T (p.Thr382Met) rs780359107 0.00001
NM_004204.5(PIGQ):c.1154T>C (p.Leu385Pro) rs2035764214 0.00001
NM_004204.5(PIGQ):c.1273C>T (p.Arg425Trp) rs748937327 0.00001
NM_004204.5(PIGQ):c.12G>T (p.Lys4Asn) rs1463376903 0.00001
NM_004204.5(PIGQ):c.1421G>A (p.Arg474Gln) rs368953625 0.00001
NM_004204.5(PIGQ):c.1435G>A (p.Ala479Thr) rs982164826 0.00001
NM_004204.5(PIGQ):c.1454A>G (p.His485Arg) rs769102651 0.00001
NM_004204.5(PIGQ):c.1462G>A (p.Val488Met) rs1206255851 0.00001
NM_004204.5(PIGQ):c.1487T>C (p.Leu496Pro) rs746073489 0.00001
NM_004204.5(PIGQ):c.1513C>T (p.Arg505Trp) rs1483235042 0.00001
NM_004204.5(PIGQ):c.1517C>T (p.Pro506Leu) rs146518413 0.00001
NM_004204.5(PIGQ):c.1531+3A>T rs1371249981 0.00001
NM_004204.5(PIGQ):c.1564G>T (p.Ala522Ser) rs754210132 0.00001
NM_004204.5(PIGQ):c.157C>T (p.Arg53Trp) rs753705578 0.00001
NM_004204.5(PIGQ):c.1593G>A (p.Gln531=) rs772229096 0.00001
NM_004204.5(PIGQ):c.1616G>A (p.Arg539His) rs201105616 0.00001
NM_004204.5(PIGQ):c.1631dup (p.Tyr544Ter) rs760045515 0.00001
NM_004204.5(PIGQ):c.1633C>T (p.Arg545Cys) rs775925962 0.00001
NM_004204.5(PIGQ):c.1640C>G (p.Pro547Arg) rs1243574378 0.00001
NM_004204.5(PIGQ):c.1669T>G (p.Trp557Gly) rs772656271 0.00001
NM_004204.5(PIGQ):c.1688A>G (p.Lys563Arg) rs1385011604 0.00001
NM_004204.5(PIGQ):c.1720A>G (p.Arg574Gly) rs750460655 0.00001
NM_004204.5(PIGQ):c.194C>T (p.Thr65Ile) rs780499636 0.00001
NM_004204.5(PIGQ):c.19T>G (p.Phe7Val) rs887947608 0.00001
NM_004204.5(PIGQ):c.233G>C (p.Gly78Ala) rs1309943856 0.00001
NM_004204.5(PIGQ):c.236G>A (p.Arg79His) rs1424030074 0.00001
NM_004204.5(PIGQ):c.293G>A (p.Arg98Gln) rs746519944 0.00001
NM_004204.5(PIGQ):c.38C>T (p.Ser13Leu) rs755870667 0.00001
NM_004204.5(PIGQ):c.422T>C (p.Leu141Pro) rs751953516 0.00001
NM_004204.5(PIGQ):c.473G>A (p.Ser158Asn) rs201595639 0.00001
NM_004204.5(PIGQ):c.481G>T (p.Gly161Cys) rs752008411 0.00001
NM_004204.5(PIGQ):c.514A>G (p.Ser172Gly) rs1008809041 0.00001
NM_004204.5(PIGQ):c.538C>T (p.Arg180Cys) rs768063812 0.00001
NM_004204.5(PIGQ):c.560G>A (p.Arg187Gln) rs1375714125 0.00001
NM_004204.5(PIGQ):c.586G>A (p.Val196Met) rs980584148 0.00001
NM_004204.5(PIGQ):c.601C>T (p.Leu201Phe) rs1415009669 0.00001
NM_004204.5(PIGQ):c.618G>C (p.Arg206Ser) rs1375197363 0.00001
NM_004204.5(PIGQ):c.64C>T (p.Arg22Trp) rs751055581 0.00001
NM_004204.5(PIGQ):c.662C>T (p.Ser221Leu) rs1331791399 0.00001
NM_004204.5(PIGQ):c.707C>T (p.Pro236Leu) rs147675216 0.00001
NM_004204.5(PIGQ):c.721G>A (p.Gly241Arg) rs959172804 0.00001
NM_004204.5(PIGQ):c.737C>T (p.Thr246Met) rs771310546 0.00001
NM_004204.5(PIGQ):c.74C>T (p.Pro25Leu) rs531991910 0.00001
NM_004204.5(PIGQ):c.77A>G (p.Glu26Gly) rs753650660 0.00001
NM_004204.5(PIGQ):c.805C>T (p.Pro269Ser) rs1283058431 0.00001
NM_004204.5(PIGQ):c.82A>T (p.Ser28Cys) rs1299731760 0.00001
NM_004204.5(PIGQ):c.842C>G (p.Ser281Cys) rs1004719821 0.00001
NM_004204.5(PIGQ):c.847C>G (p.Leu283Val) rs1475166338 0.00001
NM_004204.5(PIGQ):c.872T>C (p.Met291Thr) rs545824092 0.00001
NM_004204.5(PIGQ):c.885G>T (p.Trp295Cys) rs1249538886 0.00001
NM_004204.5(PIGQ):c.890A>C (p.His297Pro) rs1479438663 0.00001
NM_004204.5(PIGQ):c.892G>A (p.Gly298Arg) rs750484214 0.00001
NM_004204.5(PIGQ):c.901C>T (p.Arg301Cys) rs754231407 0.00001
NM_004204.5(PIGQ):c.913C>G (p.Leu305Val) rs771818509 0.00001
NM_004204.5(PIGQ):c.943-3C>T rs368120433 0.00001
NM_004204.5(PIGQ):c.986G>A (p.Gly329Asp) rs1274248153 0.00001
NC_000002.11:g.165492423_165973543dup
NC_000016.10:g.(?_582883)_(648190_?)del
NC_000016.9:g.(?_256302)_(4852572_?)dup
NC_000016.9:g.(?_289853)_(626274_?)dup
NC_000016.9:g.(?_624055)_(2153916_?)dup
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile) rs1558911753
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.*672_*675del rs886055038
NM_001165963.4(SCN1A):c.*878dup rs886055037
NM_001165963.4(SCN1A):c.*977T>C rs886055035
NM_001165963.4(SCN1A):c.2044-14A>T rs537722606
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) rs886055045
NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) rs886055044
NM_001165963.4(SCN1A):c.3880-10G>C rs886055043
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) rs886055046
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041
NM_001353921.2(ARHGEF9):c.211-5C>T rs1569481993
NM_004204.5(PIGQ):c.1007T>G (p.Met336Arg)
NM_004204.5(PIGQ):c.100G>C (p.Ala34Pro)
NM_004204.5(PIGQ):c.1012C>A (p.Arg338Ser) rs559762174
NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly) rs559762174
NM_004204.5(PIGQ):c.1015G>A (p.Ala339Thr)
NM_004204.5(PIGQ):c.101C>T (p.Ala34Val)
NM_004204.5(PIGQ):c.1026G>A (p.Gln342=)
NM_004204.5(PIGQ):c.1029G>C (p.Val343=)
NM_004204.5(PIGQ):c.1071C>G (p.Ser357Arg)
NM_004204.5(PIGQ):c.1072T>C (p.Tyr358His)
NM_004204.5(PIGQ):c.1088C>A (p.Ser363Tyr) rs200912387
NM_004204.5(PIGQ):c.1094_1095inv (p.Phe365Ter)
NM_004204.5(PIGQ):c.1097T>C (p.Val366Ala) rs2151047289
NM_004204.5(PIGQ):c.1127C>T (p.Ser376Leu)
NM_004204.5(PIGQ):c.1130C>T (p.Ala377Val) rs1567176628
NM_004204.5(PIGQ):c.1133G>C (p.Cys378Ser)
NM_004204.5(PIGQ):c.1139G>A (p.Gly380Asp)
NM_004204.5(PIGQ):c.115C>T (p.Pro39Ser)
NM_004204.5(PIGQ):c.1160T>G (p.Leu387Arg) rs778851261
NM_004204.5(PIGQ):c.1162C>T (p.Leu388Phe) rs2151047356
NM_004204.5(PIGQ):c.1167G>A (p.Ser389=) rs576698468
NM_004204.5(PIGQ):c.1178C>T (p.Ala393Val)
NM_004204.5(PIGQ):c.1210G>A (p.Val404Ile) rs558909404
NM_004204.5(PIGQ):c.1210G>T (p.Val404Phe)
NM_004204.5(PIGQ):c.1213T>C (p.Tyr405His)
NM_004204.5(PIGQ):c.121A>T (p.Ile41Phe) rs2151044199
NM_004204.5(PIGQ):c.1223+3G>A
NM_004204.5(PIGQ):c.1244A>G (p.His415Arg) rs2035771354
NM_004204.5(PIGQ):c.124C>G (p.Pro42Ala)
NM_004204.5(PIGQ):c.1258C>G (p.Leu420Val) rs1000483000
NM_004204.5(PIGQ):c.125C>T (p.Pro42Leu)
NM_004204.5(PIGQ):c.12G>A (p.Lys4=) rs1463376903
NM_004204.5(PIGQ):c.1324G>A (p.Asp442Asn)
NM_004204.5(PIGQ):c.1380G>T (p.Leu460=)
NM_004204.5(PIGQ):c.1388C>T (p.Thr463Ile)
NM_004204.5(PIGQ):c.1397A>G (p.Tyr466Cys) rs368650262
NM_004204.5(PIGQ):c.1406T>C (p.Val469Ala)
NM_004204.5(PIGQ):c.1416+3G>A rs763735684
NM_004204.5(PIGQ):c.1417C>G (p.Leu473Val)
NM_004204.5(PIGQ):c.1417C>T (p.Leu473Phe) rs2035798066
NM_004204.5(PIGQ):c.1429G>A (p.Val477Met)
NM_004204.5(PIGQ):c.1453C>T (p.His485Tyr)
NM_004204.5(PIGQ):c.1457T>G (p.Leu486Arg)
NM_004204.5(PIGQ):c.1487T>A (p.Leu496Gln)
NM_004204.5(PIGQ):c.1505G>T (p.Arg502Leu) rs145602990
NM_004204.5(PIGQ):c.1511G>A (p.Cys504Tyr) rs2151048966
NM_004204.5(PIGQ):c.1520A>G (p.Tyr507Cys) rs1037601270
NM_004204.5(PIGQ):c.1528G>T (p.Ala510Ser) rs199901158
NM_004204.5(PIGQ):c.1529C>A (p.Ala510Glu)
NM_004204.5(PIGQ):c.1529C>T (p.Ala510Val) rs752541286
NM_004204.5(PIGQ):c.1531+5G>A rs2035801003
NM_004204.5(PIGQ):c.1532-5T>C
NM_004204.5(PIGQ):c.1546C>T (p.Arg516Cys) rs144613953
NM_004204.5(PIGQ):c.1547G>C (p.Arg516Pro)
NM_004204.5(PIGQ):c.1549G>A (p.Val517Ile) rs1452689348
NM_004204.5(PIGQ):c.1555C>T (p.Arg519Trp) rs768824250
NM_004204.5(PIGQ):c.1560C>G (p.His520Gln) rs561397217
NM_004204.5(PIGQ):c.156G>A (p.Val52=)
NM_004204.5(PIGQ):c.1571G>C (p.Arg524Thr)
NM_004204.5(PIGQ):c.1580G>A (p.Arg527His) rs745593701
NM_004204.5(PIGQ):c.1593+1G>T rs2035827351
NM_004204.5(PIGQ):c.1616G>T (p.Arg539Leu) rs201105616
NM_004204.5(PIGQ):c.1618G>A (p.Val540Met) rs1369795901
NM_004204.5(PIGQ):c.1621G>A (p.Val541Met)
NM_004204.5(PIGQ):c.1628C>G (p.Thr543Ser) rs142961139
NM_004204.5(PIGQ):c.1628C>T (p.Thr543Ile) rs142961139
NM_004204.5(PIGQ):c.1636C>T (p.Leu546Phe)
NM_004204.5(PIGQ):c.1639C>A (p.Pro547Thr)
NM_004204.5(PIGQ):c.1684C>T (p.Arg562Cys)
NM_004204.5(PIGQ):c.1684del (p.Arg562fs) rs1295848867
NM_004204.5(PIGQ):c.1685G>T (p.Arg562Leu)
NM_004204.5(PIGQ):c.1690C>G (p.Leu564Val)
NM_004204.5(PIGQ):c.1696C>T (p.Leu566Phe) rs2035837258
NM_004204.5(PIGQ):c.1717T>A (p.Trp573Arg) rs781446048
NM_004204.5(PIGQ):c.1717del (p.Trp573fs) rs2151050295
NM_004204.5(PIGQ):c.1723C>T (p.Gln575Ter)
NM_004204.5(PIGQ):c.1728_1729del (p.Asp578fs) rs2035837726
NM_004204.5(PIGQ):c.1730G>A (p.Gly577Glu) rs1567178400
NM_004204.5(PIGQ):c.1736A>G (p.Lys579Arg)
NM_004204.5(PIGQ):c.1741G>A (p.Asp581Asn) rs576801855
NM_004204.5(PIGQ):c.178G>A (p.Val60Met) rs1417725796
NM_004204.5(PIGQ):c.184G>A (p.Val62Met) rs770308646
NM_004204.5(PIGQ):c.1A>C (p.Met1Leu)
NM_004204.5(PIGQ):c.212A>G (p.Gln71Arg) rs373072203
NM_004204.5(PIGQ):c.227G>A (p.Ser76Asn)
NM_004204.5(PIGQ):c.227G>T (p.Ser76Ile)
NM_004204.5(PIGQ):c.234_254del (p.Arg79_Gly85del) rs770707223
NM_004204.5(PIGQ):c.23C>A (p.Pro8His) rs763664510
NM_004204.5(PIGQ):c.271G>A (p.Glu91Lys)
NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln) rs750533490
NM_004204.5(PIGQ):c.272_273delinsTT (p.Glu91Val)
NM_004204.5(PIGQ):c.275C>A (p.Pro92His)
NM_004204.5(PIGQ):c.283C>T (p.Arg95Trp)
NM_004204.5(PIGQ):c.284G>A (p.Arg95Gln)
NM_004204.5(PIGQ):c.28T>G (p.Cys10Gly) rs2151044098
NM_004204.5(PIGQ):c.332A>C (p.His111Pro) rs2151044384
NM_004204.5(PIGQ):c.333C>A (p.His111Gln) rs753882585
NM_004204.5(PIGQ):c.335G>C (p.Arg112Pro) rs200272055
NM_004204.5(PIGQ):c.340G>A (p.Ala114Thr) rs758619621
NM_004204.5(PIGQ):c.352C>T (p.Pro118Ser) rs2151044408
NM_004204.5(PIGQ):c.364G>C (p.Gly122Arg) rs1445684819
NM_004204.5(PIGQ):c.386TCT[1] (p.Phe130del)
NM_004204.5(PIGQ):c.38C>G (p.Ser13Trp) rs755870667
NM_004204.5(PIGQ):c.399G>C (p.Gln133His)
NM_004204.5(PIGQ):c.39_40delinsAG (p.Thr14Ala) rs1555451582
NM_004204.5(PIGQ):c.40_41inv (p.Thr14Val)
NM_004204.5(PIGQ):c.412C>G (p.Leu138Val) rs139840454
NM_004204.5(PIGQ):c.488C>G (p.Ala163Gly) rs767292546
NM_004204.5(PIGQ):c.499G>C (p.Asp167His)
NM_004204.5(PIGQ):c.502A>T (p.Thr168Ser) rs372058981
NM_004204.5(PIGQ):c.503C>T (p.Thr168Met) rs771796362
NM_004204.5(PIGQ):c.511C>T (p.Arg171Cys)
NM_004204.5(PIGQ):c.517G>C (p.Glu173Gln)
NM_004204.5(PIGQ):c.520G>A (p.Val174Met)
NM_004204.5(PIGQ):c.527T>C (p.Phe176Ser) rs1596382723
NM_004204.5(PIGQ):c.532A>C (p.Ser178Arg) rs2151044564
NM_004204.5(PIGQ):c.554C>G (p.Pro185Arg) rs2151044586
NM_004204.5(PIGQ):c.556G>A (p.Val186Met) rs369384971
NM_004204.5(PIGQ):c.559C>T (p.Arg187Trp) rs778834598
NM_004204.5(PIGQ):c.566G>A (p.Ser189Asn) rs1159912419
NM_004204.5(PIGQ):c.578C>T (p.Ser193Leu) rs2035689661
NM_004204.5(PIGQ):c.602T>C (p.Leu201Pro) rs2151044641
NM_004204.5(PIGQ):c.605C>A (p.Ala202Glu) rs368941189
NM_004204.5(PIGQ):c.605C>T (p.Ala202Val) rs368941189
NM_004204.5(PIGQ):c.608A>C (p.Glu203Ala) rs2035690687
NM_004204.5(PIGQ):c.616A>T (p.Arg206Trp)
NM_004204.5(PIGQ):c.625T>G (p.Ser209Ala)
NM_004204.5(PIGQ):c.629G>T (p.Gly210Val) rs752169643
NM_004204.5(PIGQ):c.637T>C (p.Cys213Arg)
NM_004204.5(PIGQ):c.638_639delinsTT (p.Cys213Phe) rs2035691564
NM_004204.5(PIGQ):c.643C>G (p.Leu215Val) rs1567175086
NM_004204.5(PIGQ):c.643_644delinsAC (p.Leu215Thr) rs2151044707
NM_004204.5(PIGQ):c.688C>G (p.Arg230Gly)
NM_004204.5(PIGQ):c.690-3C>A rs370348620
NM_004204.5(PIGQ):c.700C>T (p.Leu234Phe)
NM_004204.5(PIGQ):c.706C>T (p.Pro236Ser) rs868670706
NM_004204.5(PIGQ):c.710T>C (p.Leu237Pro)
NM_004204.5(PIGQ):c.719T>C (p.Leu240Pro) rs1265303263
NM_004204.5(PIGQ):c.734C>G (p.Ser245Cys)
NM_004204.5(PIGQ):c.734C>T (p.Ser245Phe)
NM_004204.5(PIGQ):c.741C>G (p.Cys247Trp)
NM_004204.5(PIGQ):c.746A>G (p.Gln249Arg) rs2151045345
NM_004204.5(PIGQ):c.754C>T (p.His252Tyr) rs2151045358
NM_004204.5(PIGQ):c.755A>C (p.His252Pro) rs2035708379
NM_004204.5(PIGQ):c.758G>A (p.Arg253Gln)
NM_004204.5(PIGQ):c.761T>C (p.Leu254Pro) rs2151045368
NM_004204.5(PIGQ):c.76G>C (p.Glu26Gln) rs2151044155
NM_004204.5(PIGQ):c.791G>A (p.Arg264Gln)
NM_004204.5(PIGQ):c.804C>A (p.Asn268Lys)
NM_004204.5(PIGQ):c.817A>G (p.Met273Val)
NM_004204.5(PIGQ):c.822-20G>A
NM_004204.5(PIGQ):c.832A>G (p.Thr278Ala) rs1596383861
NM_004204.5(PIGQ):c.852G>A (p.Leu284=)
NM_004204.5(PIGQ):c.856G>T (p.Val286Leu) rs575220879
NM_004204.5(PIGQ):c.865G>A (p.Gly289Ser)
NM_004204.5(PIGQ):c.865G>C (p.Gly289Arg) rs960501850
NM_004204.5(PIGQ):c.86G>A (p.Ser29Asn)
NM_004204.5(PIGQ):c.892G>T (p.Gly298Trp)
NM_004204.5(PIGQ):c.902G>C (p.Arg301Pro) rs371210440
NM_004204.5(PIGQ):c.942+5G>A rs2035716269
NM_004204.5(PIGQ):c.942C>T (p.Asp314=)
NM_004204.5(PIGQ):c.952G>A (p.Glu318Lys)
NM_014777.4(URB2):c.1949del (p.Gly650fs) rs1665832767
Single allele

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