ClinVar Miner

List of variants in gene RFX5 studied for MHC class II deficiency

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Gene type:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_001025603.2(RFX5):c.753C>T (p.Leu251=) rs1752386 0.97700
NM_001025603.2(RFX5):c.*283A>G rs1752387 0.78764
NM_001025603.2(RFX5):c.*888T>C rs7552906 0.62946
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_001025603.2(RFX5):c.*244A>G rs2233857 0.03351
NM_001025603.2(RFX5):c.753= (p.Leu251=) rs1752386 0.02300
NM_001025603.2(RFX5):c.64G>A (p.Ala22Thr) rs2233843 0.01578
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00835
NM_001025603.2(RFX5):c.900C>T (p.Leu300=) rs2233853 0.00817
NM_001025603.2(RFX5):c.*1084A>C rs116826799 0.00534
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_001025603.2(RFX5):c.*1413A>C rs368014716 0.00425
NM_001025603.2(RFX5):c.*1520_*1521insATT rs529662057 0.00330
NM_001025603.2(RFX5):c.*838A>G rs552790524 0.00197
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_001025603.2(RFX5):c.222T>G (p.Thr74=) rs145198853 0.00112
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_001025603.2(RFX5):c.982C>A (p.Arg328=) rs78854744 0.00054
NM_001025603.2(RFX5):c.1185A>G (p.Gly395=) rs372560621 0.00048
NM_001025603.2(RFX5):c.1039T>C (p.Ser347Pro) rs199761884 0.00045
NM_001025603.2(RFX5):c.*1158G>A rs147378847 0.00035
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) rs144353639 0.00028
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00027
NM_001025603.2(RFX5):c.*1177C>T rs567453441 0.00025
NM_001025603.2(RFX5):c.851T>C (p.Leu284Pro) rs149605765 0.00025
NM_001025603.2(RFX5):c.914G>A (p.Arg305Gln) rs374354196 0.00024
NM_001025603.2(RFX5):c.*373G>T rs886045280 0.00022
NM_001025603.2(RFX5):c.892G>A (p.Gly298Ser) rs146341254 0.00021
NM_001025603.2(RFX5):c.*364A>C rs769251514 0.00018
NM_001025603.2(RFX5):c.116+12T>C rs371561606 0.00016
NM_001025603.2(RFX5):c.354-17G>A rs369304906 0.00016
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_001025603.2(RFX5):c.116+18C>T rs770400757 0.00012
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00010
NM_001025603.2(RFX5):c.1159A>G (p.Thr387Ala) rs147822761 0.00009
NM_001025603.2(RFX5):c.1409G>A (p.Arg470Gln) rs138131380 0.00009
NM_001025603.2(RFX5):c.382C>T (p.Arg128Cys) rs771181740 0.00009
NM_001025603.2(RFX5):c.757+20T>C rs376912190 0.00009
NM_001025603.2(RFX5):c.884C>T (p.Thr295Ile) rs367615574 0.00009
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu) rs140885618 0.00009
NM_001025603.2(RFX5):c.*1078C>T rs886045278 0.00008
NM_001025603.2(RFX5):c.881G>A (p.Arg294Gln) rs777652681 0.00007
NM_001025603.2(RFX5):c.1178G>C (p.Gly393Ala) rs779249436 0.00006
NM_001025603.2(RFX5):c.1322C>G (p.Ala441Gly) rs148572733 0.00006
NM_001025603.2(RFX5):c.1639G>A (p.Gly547Ser) rs147579805 0.00006
NM_001025603.2(RFX5):c.*1330C>T rs886045276 0.00005
NM_001025603.2(RFX5):c.1229G>A (p.Arg410Gln) rs774918872 0.00005
NM_001025603.2(RFX5):c.1399G>A (p.Gly467Arg) rs771929451 0.00005
NM_001025603.2(RFX5):c.150+11T>C rs748110897 0.00005
NM_001025603.2(RFX5):c.354-13C>T rs201366378 0.00005
NM_001025603.2(RFX5):c.473+14G>C rs750170207 0.00005
NM_001025603.2(RFX5):c.473+20T>C rs752921480 0.00005
NM_001025603.2(RFX5):c.474-3C>A rs373984217 0.00005
NM_001025603.2(RFX5):c.514A>G (p.Met172Val) rs767055616 0.00005
NM_001025603.2(RFX5):c.547T>C (p.Ser183Pro) rs192832486 0.00005
NM_001025603.2(RFX5):c.678C>T (p.Val226=) rs559709373 0.00005
NM_001025603.2(RFX5):c.860C>T (p.Pro287Leu) rs771016197 0.00005
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter) rs79106593 0.00004
NM_001025603.2(RFX5):c.1455G>A (p.Lys485=) rs543484330 0.00004
NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn) rs371115213 0.00004
NM_001025603.2(RFX5):c.1809C>A (p.Ser603=) rs749723355 0.00004
NM_001025603.2(RFX5):c.383G>A (p.Arg128His) rs377555466 0.00004
NM_001025603.2(RFX5):c.387A>G (p.Pro129=) rs200465567 0.00004
NM_001025603.2(RFX5):c.433G>C (p.Asp145His) rs999104857 0.00004
NM_001025603.2(RFX5):c.716G>A (p.Arg239Gln) rs563701437 0.00004
NM_001025603.2(RFX5):c.766G>A (p.Glu256Lys) rs779122234 0.00004
NM_001025603.2(RFX5):c.807T>G (p.Gly269=) rs147137349 0.00004
NM_001025603.2(RFX5):c.833A>T (p.His278Leu) rs769764756 0.00004
NM_001025603.2(RFX5):c.1211G>A (p.Gly404Glu) rs142021660 0.00003
NM_001025603.2(RFX5):c.1384G>C (p.Ala462Pro) rs1049115102 0.00003
NM_001025603.2(RFX5):c.1393A>C (p.Lys465Gln) rs375408133 0.00003
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp) rs1557830458 0.00003
NM_001025603.2(RFX5):c.279T>C (p.Tyr93=) rs1041864880 0.00003
NM_001025603.2(RFX5):c.316A>G (p.Thr106Ala) rs200850573 0.00003
NM_001025603.2(RFX5):c.352C>T (p.Arg118Trp) rs747555214 0.00003
NM_001025603.2(RFX5):c.693A>G (p.Leu231=) rs532786569 0.00003
NM_001025603.2(RFX5):c.758-20C>T rs1036063384 0.00003
NM_001025603.2(RFX5):c.778C>T (p.Arg260Trp) rs573462368 0.00003
NM_001025603.2(RFX5):c.779G>A (p.Arg260Gln) rs767157275 0.00003
NM_001025603.2(RFX5):c.785G>A (p.Arg262Gln) rs770446657 0.00003
NM_001025603.2(RFX5):c.984G>A (p.Arg328=) rs374283593 0.00003
NM_001025603.2(RFX5):c.*881C>T rs1245339817 0.00002
NM_001025603.2(RFX5):c.1026G>A (p.Pro342=) rs533017502 0.00002
NM_001025603.2(RFX5):c.1079T>C (p.Leu360Pro) rs778736083 0.00002
NM_001025603.2(RFX5):c.1169C>G (p.Ala390Gly) rs747657030 0.00002
NM_001025603.2(RFX5):c.1202C>T (p.Ala401Val) rs754036790 0.00002
NM_001025603.2(RFX5):c.1228C>T (p.Arg410Trp) rs760069839 0.00002
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr) rs966468525 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.233+14T>C rs751925565 0.00002
NM_001025603.2(RFX5):c.261G>A (p.Glu87=) rs370136250 0.00002
NM_001025603.2(RFX5):c.474-12A>G rs374766761 0.00002
NM_001025603.2(RFX5):c.556-17G>A rs767641355 0.00002
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala) rs376672819 0.00002
NM_001025603.2(RFX5):c.641G>A (p.Arg214Gln) rs774928260 0.00002
NM_001025603.2(RFX5):c.652C>T (p.Arg218Trp) rs908948599 0.00002
NM_001025603.2(RFX5):c.758-9C>T rs758626785 0.00002
NM_001025603.2(RFX5):c.858+13G>A rs778371620 0.00002
NM_001025603.2(RFX5):c.901G>A (p.Ala301Thr) rs751882814 0.00002
NM_001025603.2(RFX5):c.958C>T (p.Leu320=) rs946081736 0.00002
NM_001025603.2(RFX5):c.*1252C>G rs886045277 0.00001
NM_001025603.2(RFX5):c.*29T>G rs1650494131 0.00001
NM_001025603.2(RFX5):c.*661T>C rs1650447532 0.00001
NM_001025603.2(RFX5):c.1003C>T (p.Arg335Trp) rs200857099 0.00001
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln) rs759307276 0.00001
NM_001025603.2(RFX5):c.1012C>T (p.Arg338Cys) rs752592050 0.00001
NM_001025603.2(RFX5):c.1013G>A (p.Arg338His) rs370830817 0.00001
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val) rs201420133 0.00001
NM_001025603.2(RFX5):c.103C>T (p.Arg35Ter) rs1363575527 0.00001
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala) rs1290400173 0.00001
NM_001025603.2(RFX5):c.1092A>G (p.Thr364=) rs753408194 0.00001
NM_001025603.2(RFX5):c.1104T>C (p.Ser368=) rs1191498228 0.00001
NM_001025603.2(RFX5):c.1113C>T (p.Ala371=) rs377016578 0.00001
NM_001025603.2(RFX5):c.1142T>C (p.Ile381Thr) rs775881643 0.00001
NM_001025603.2(RFX5):c.117-3C>T rs2102070585 0.00001
NM_001025603.2(RFX5):c.1188T>G (p.Pro396=) rs1650598070 0.00001
NM_001025603.2(RFX5):c.1201G>A (p.Ala401Thr) rs1225475866 0.00001
NM_001025603.2(RFX5):c.1207C>G (p.Pro403Ala) rs760699089 0.00001
NM_001025603.2(RFX5):c.123C>T (p.Ala41=) rs759231161 0.00001
NM_001025603.2(RFX5):c.1252G>A (p.Gly418Ser) rs150702096 0.00001
NM_001025603.2(RFX5):c.1277A>G (p.His426Arg) rs1650578905 0.00001
NM_001025603.2(RFX5):c.1298C>T (p.Thr433Ile) rs946314298 0.00001
NM_001025603.2(RFX5):c.1325G>C (p.Ser442Thr) rs756299731 0.00001
NM_001025603.2(RFX5):c.1363A>G (p.Ile455Val) rs767628288 0.00001
NM_001025603.2(RFX5):c.1387A>G (p.Lys463Glu) rs761522836 0.00001
NM_001025603.2(RFX5):c.1403G>A (p.Arg468His) rs778751859 0.00001
NM_001025603.2(RFX5):c.1406C>T (p.Pro469Leu) rs756355701 0.00001
NM_001025603.2(RFX5):c.1415A>T (p.Lys472Met) rs1265793800 0.00001
NM_001025603.2(RFX5):c.1445C>T (p.Thr482Ile) rs1245539885 0.00001
NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter) rs1426299431 0.00001
NM_001025603.2(RFX5):c.150+12G>A rs1651003458 0.00001
NM_001025603.2(RFX5):c.150+13G>T rs199965973 0.00001
NM_001025603.2(RFX5):c.150+15G>A rs747953600 0.00001
NM_001025603.2(RFX5):c.1510G>A (p.Gly504Ser) rs372047964 0.00001
NM_001025603.2(RFX5):c.1511G>A (p.Gly504Asp) rs1211796527 0.00001
NM_001025603.2(RFX5):c.1536T>G (p.Ala512=) rs751751399 0.00001
NM_001025603.2(RFX5):c.1545A>G (p.Ala515=) rs368646297 0.00001
NM_001025603.2(RFX5):c.1578_1594dup (p.Gln532fs) rs757464167 0.00001
NM_001025603.2(RFX5):c.1588C>G (p.Leu530Val) rs774380605 0.00001
NM_001025603.2(RFX5):c.1638C>T (p.Pro546=) rs145909673 0.00001
NM_001025603.2(RFX5):c.165A>G (p.Lys55=) rs761707138 0.00001
NM_001025603.2(RFX5):c.1697G>A (p.Ser566Asn) rs1406372588 0.00001
NM_001025603.2(RFX5):c.1715G>A (p.Arg572Lys) rs1378555427 0.00001
NM_001025603.2(RFX5):c.172del (p.Asp58fs) rs2529040595 0.00001
NM_001025603.2(RFX5):c.1746G>C (p.Lys582Asn) rs750907232 0.00001
NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser) rs769690666 0.00001
NM_001025603.2(RFX5):c.1775A>G (p.Asn592Ser) rs1249805600 0.00001
NM_001025603.2(RFX5):c.1849del (p.Ter617AspextTer?) rs926636230 0.00001
NM_001025603.2(RFX5):c.233+1G>T rs922151130 0.00001
NM_001025603.2(RFX5):c.234-6C>G rs773511375 0.00001
NM_001025603.2(RFX5):c.234-9T>C rs1650865367 0.00001
NM_001025603.2(RFX5):c.254G>A (p.Ser85Asn) rs1650861450 0.00001
NM_001025603.2(RFX5):c.256A>G (p.Asn86Asp) rs140430054 0.00001
NM_001025603.2(RFX5):c.310A>G (p.Thr104Ala) rs763695749 0.00001
NM_001025603.2(RFX5):c.353+12G>A rs758784766 0.00001
NM_001025603.2(RFX5):c.377G>C (p.Cys126Ser) rs199838456 0.00001
NM_001025603.2(RFX5):c.385C>T (p.Pro129Ser) rs1486774899 0.00001
NM_001025603.2(RFX5):c.415A>G (p.Ile139Val) rs1363432272 0.00001
NM_001025603.2(RFX5):c.436A>C (p.Ile146Leu) rs752256174 0.00001
NM_001025603.2(RFX5):c.445C>T (p.Arg149Ter) rs1489967497 0.00001
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly) rs1267411733 0.00001
NM_001025603.2(RFX5):c.473+19G>A rs543941460 0.00001
NM_001025603.2(RFX5):c.473+2T>C rs1235319638 0.00001
NM_001025603.2(RFX5):c.473A>G (p.Lys158Arg) rs762687997 0.00001
NM_001025603.2(RFX5):c.49G>T (p.Ala17Ser) rs549403330 0.00001
NM_001025603.2(RFX5):c.516G>A (p.Met172Ile) rs141894084 0.00001
NM_001025603.2(RFX5):c.557C>A (p.Pro186Gln) rs751651095 0.00001
NM_001025603.2(RFX5):c.566G>T (p.Gly189Val) rs763597435 0.00001
NM_001025603.2(RFX5):c.584C>T (p.Ala195Val) rs1161918393 0.00001
NM_001025603.2(RFX5):c.592G>A (p.Asp198Asn) rs765790885 0.00001
NM_001025603.2(RFX5):c.603G>A (p.Val201=) rs776987628 0.00001
NM_001025603.2(RFX5):c.635C>G (p.Ala212Gly) rs940480924 0.00001
NM_001025603.2(RFX5):c.653G>A (p.Arg218Gln) rs771537001 0.00001
NM_001025603.2(RFX5):c.683G>A (p.Arg228His) rs755224518 0.00001
NM_001025603.2(RFX5):c.687C>T (p.Phe229=) rs201848165 0.00001
NM_001025603.2(RFX5):c.698A>G (p.Gln233Arg) rs1359830713 0.00001
NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter) rs1233130743 0.00001
NM_001025603.2(RFX5):c.730C>A (p.His244Asn) rs754211715 0.00001
NM_001025603.2(RFX5):c.757+12C>T rs1432405815 0.00001
NM_001025603.2(RFX5):c.765C>T (p.Asp255=) rs774595444 0.00001
NM_001025603.2(RFX5):c.840G>A (p.Lys280=) rs1426164215 0.00001
NM_001025603.2(RFX5):c.857A>G (p.Gln286Arg) rs749274849 0.00001
NM_001025603.2(RFX5):c.859-2A>G rs1650653829 0.00001
NM_001025603.2(RFX5):c.859-7T>C rs976314428 0.00001
NM_001025603.2(RFX5):c.880C>T (p.Arg294Ter) rs1196551559 0.00001
NM_001025603.2(RFX5):c.891C>T (p.Ala297=) rs756715207 0.00001
NM_001025603.2(RFX5):c.905G>A (p.Arg302His) rs780878545 0.00001
NM_001025603.2(RFX5):c.961C>T (p.Gln321Ter) rs368167684 0.00001
NM_001025603.2(RFX5):c.962A>G (p.Gln321Arg) rs781688064 0.00001
NM_001025603.2(RFX5):c.986T>C (p.Leu329Pro) rs778532900 0.00001
NM_001025603.2(RFX5):c.996C>G (p.Leu332=) rs919287183 0.00001
NM_001025603.2(RFX5):c.*1118A>G rs755296550
NM_001025603.2(RFX5):c.*1166A>G rs1469541203
NM_001025603.2(RFX5):c.*1426A>G rs1650383710
NM_001025603.2(RFX5):c.*224T>C rs886045281
NM_001025603.2(RFX5):c.*694del rs570133232
NM_001025603.2(RFX5):c.*721G>T rs116610938
NM_001025603.2(RFX5):c.*761A>T rs1650440219
NM_001025603.2(RFX5):c.*985del rs886045279
NM_001025603.2(RFX5):c.1008_1014del (p.Pro337fs) rs2529020120
NM_001025603.2(RFX5):c.1016C>G (p.Ser339Ter) rs992795118
NM_001025603.2(RFX5):c.1020_1022dup (p.Ile341dup) rs1571257755
NM_001025603.2(RFX5):c.1033C>A (p.Pro345Thr) rs1386497621
NM_001025603.2(RFX5):c.1034_1035del (p.Pro345fs) rs2529019649
NM_001025603.2(RFX5):c.1037T>A (p.Val346Asp) rs776636293
NM_001025603.2(RFX5):c.1037T>C (p.Val346Ala) rs776636293
NM_001025603.2(RFX5):c.1041T>C (p.Ser347=) rs772899056
NM_001025603.2(RFX5):c.1045C>T (p.Pro349Ser) rs1650620751
NM_001025603.2(RFX5):c.1051C>T (p.Leu351=) rs1650619419
NM_001025603.2(RFX5):c.1056C>T (p.Ala352=) rs780507159
NM_001025603.2(RFX5):c.1058C>G (p.Pro353Arg) rs2529019332
NM_001025603.2(RFX5):c.1059del (p.Arg354fs) rs2529019322
NM_001025603.2(RFX5):c.1063C>G (p.Leu355Val) rs1329825751
NM_001025603.2(RFX5):c.1069T>G (p.Ser357Ala) rs772299989
NM_001025603.2(RFX5):c.106G>C (p.Gly36Arg) rs1651042289
NM_001025603.2(RFX5):c.1071A>G (p.Ser357=)
NM_001025603.2(RFX5):c.10G>A (p.Asp4Asn) rs1651053936
NM_001025603.2(RFX5):c.1109G>A (p.Arg370Lys) rs1402328710
NM_001025603.2(RFX5):c.1114G>A (p.Gly372Arg) rs968244065
NM_001025603.2(RFX5):c.1114G>C (p.Gly372Arg) rs968244065
NM_001025603.2(RFX5):c.1150A>T (p.Ile384Phe) rs1478758721
NM_001025603.2(RFX5):c.115T>G (p.Ser39Ala) rs2529050271
NM_001025603.2(RFX5):c.116+16A>G rs1420974177
NM_001025603.2(RFX5):c.1160C>G (p.Thr387Ser) rs777478021
NM_001025603.2(RFX5):c.117-1G>T rs2529048000
NM_001025603.2(RFX5):c.1178G>A (p.Gly393Glu) rs779249436
NM_001025603.2(RFX5):c.1189G>A (p.Gly397Arg) rs2102060483
NM_001025603.2(RFX5):c.1218C>T (p.Leu406=)
NM_001025603.2(RFX5):c.1222C>T (p.Gln408Ter)
NM_001025603.2(RFX5):c.1225C>T (p.Pro409Ser) rs1650592357
NM_001025603.2(RFX5):c.1247_1249dup (p.Glu416dup) rs1650586148
NM_001025603.2(RFX5):c.124G>A (p.Val42Met) rs773959553
NM_001025603.2(RFX5):c.1250T>C (p.Val417Ala) rs1650585242
NM_001025603.2(RFX5):c.1255A>T (p.Ile419Leu) rs1650583011
NM_001025603.2(RFX5):c.1263T>C (p.Gly421=) rs1650581156
NM_001025603.2(RFX5):c.1266C>T (p.Asp422=) rs2529017045
NM_001025603.2(RFX5):c.1283A>G (p.Lys428Arg)
NM_001025603.2(RFX5):c.129G>A (p.Gln43=) rs1651009031
NM_001025603.2(RFX5):c.1301C>G (p.Ala434Gly) rs2102060054
NM_001025603.2(RFX5):c.1316G>T (p.Ser439Ile) rs1650574183
NM_001025603.2(RFX5):c.1322C>T (p.Ala441Val) rs148572733
NM_001025603.2(RFX5):c.1323C>T (p.Ala441=) rs1233467888
NM_001025603.2(RFX5):c.1333G>A (p.Ala445Thr) rs752775566
NM_001025603.2(RFX5):c.1333G>T (p.Ala445Ser) rs752775566
NM_001025603.2(RFX5):c.1334C>G (p.Ala445Gly) rs2102059942
NM_001025603.2(RFX5):c.1342_1343delinsTT (p.Ala448Phe) rs2102059917
NM_001025603.2(RFX5):c.1348G>A (p.Ala450Thr) rs1650569455
NM_001025603.2(RFX5):c.1372A>G (p.Thr458Ala) rs1650566115
NM_001025603.2(RFX5):c.1374dup (p.Ala459fs) rs779214753
NM_001025603.2(RFX5):c.1379G>T (p.Ser460Ile) rs142053610
NM_001025603.2(RFX5):c.137dup (p.Glu47fs) rs2529047720
NM_001025603.2(RFX5):c.1380T>A (p.Ser460Arg) rs773657539
NM_001025603.2(RFX5):c.1420G>C (p.Gly474Arg) rs2529015839
NM_001025603.2(RFX5):c.1423G>A (p.Gly475Arg) rs1214801747
NM_001025603.2(RFX5):c.1437G>A (p.Arg479=)
NM_001025603.2(RFX5):c.1452C>T (p.Leu484=)
NM_001025603.2(RFX5):c.1490G>C (p.Arg497Thr) rs1650547272
NM_001025603.2(RFX5):c.150+7G>A rs2529047420
NM_001025603.2(RFX5):c.151-17_151-16del
NM_001025603.2(RFX5):c.151-1G>T rs2102068023
NM_001025603.2(RFX5):c.1512C>T (p.Gly504=)
NM_001025603.2(RFX5):c.1521G>A (p.Gly507=) rs755198058
NM_001025603.2(RFX5):c.1526G>A (p.Gly509Asp) rs2529014876
NM_001025603.2(RFX5):c.156T>C (p.Asp52=)
NM_001025603.2(RFX5):c.1582G>C (p.Ala528Pro) rs766981191
NM_001025603.2(RFX5):c.15G>A (p.Glu5=)
NM_001025603.2(RFX5):c.1614T>C (p.Thr538=) rs958989841
NM_001025603.2(RFX5):c.1629A>G (p.Gly543=)
NM_001025603.2(RFX5):c.1630A>C (p.Arg544=) rs2102058778
NM_001025603.2(RFX5):c.1648C>G (p.His550Asp) rs1386973231
NM_001025603.2(RFX5):c.1651A>G (p.Thr551Ala) rs1464766994
NM_001025603.2(RFX5):c.1653C>T (p.Thr551=)
NM_001025603.2(RFX5):c.1660G>A (p.Ala554Thr)
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_001025603.2(RFX5):c.1685C>T (p.Pro562Leu) rs1650521612
NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu) rs2233856
NM_001025603.2(RFX5):c.1706dup (p.Ser571fs) rs763938154
NM_001025603.2(RFX5):c.1744A>G (p.Lys582Glu) rs2529012959
NM_001025603.2(RFX5):c.1748G>A (p.Gly583Glu) rs1421740629
NM_001025603.2(RFX5):c.1754T>G (p.Val585Gly) rs762798581
NM_001025603.2(RFX5):c.1768del (p.Gln590fs) rs1650510452
NM_001025603.2(RFX5):c.1771G>A (p.Gly591Ser) rs1650509739
NM_001025603.2(RFX5):c.1779del (p.Asp594fs) rs2102058217
NM_001025603.2(RFX5):c.1783T>C (p.Leu595=) rs2529012408
NM_001025603.2(RFX5):c.1797G>C (p.Val599=)
NM_001025603.2(RFX5):c.1803A>G (p.Gln601=)
NM_001025603.2(RFX5):c.1816C>T (p.Gln606Ter) rs1650505010
NM_001025603.2(RFX5):c.1823A>G (p.His608Arg) rs1299164585
NM_001025603.2(RFX5):c.1838del (p.Ala613fs) rs1557829420
NM_001025603.2(RFX5):c.1847C>T (p.Pro616Leu) rs762180594
NM_001025603.2(RFX5):c.189T>C (p.Tyr63=)
NM_001025603.2(RFX5):c.192C>T (p.Leu64=)
NM_001025603.2(RFX5):c.214C>T (p.Pro72Ser) rs2102067902
NM_001025603.2(RFX5):c.21T>A (p.Asp7Glu) rs2102071642
NM_001025603.2(RFX5):c.228C>T (p.Asp76=)
NM_001025603.2(RFX5):c.233+19T>A rs766725746
NM_001025603.2(RFX5):c.233+7T>C rs1301707603
NM_001025603.2(RFX5):c.234-6del rs2102067182
NM_001025603.2(RFX5):c.273T>G (p.Tyr91Ter) rs1650858382
NM_001025603.2(RFX5):c.282G>A (p.Arg94=) rs2529037795
NM_001025603.2(RFX5):c.290G>A (p.Arg97His) rs756804631
NM_001025603.2(RFX5):c.312dup (p.Asp105Ter) rs1571262081
NM_001025603.2(RFX5):c.315C>T (p.Asp105=) rs1650854499
NM_001025603.2(RFX5):c.320G>C (p.Cys107Ser) rs1309670347
NM_001025603.2(RFX5):c.33C>T (p.Pro11=) rs2102071618
NM_001025603.2(RFX5):c.341ATG[1] (p.Asp115del) rs2529037132
NM_001025603.2(RFX5):c.345T>A (p.Asp115Glu) rs531565556
NM_001025603.2(RFX5):c.353+2T>G rs1183832067
NM_001025603.2(RFX5):c.354-17G>T
NM_001025603.2(RFX5):c.367_368del (p.Leu124fs) rs1228361094
NM_001025603.2(RFX5):c.392G>A (p.Ser131Asn) rs1303581241
NM_001025603.2(RFX5):c.446G>A (p.Arg149Gln) rs137853099
NM_001025603.2(RFX5):c.473+12T>C
NM_001025603.2(RFX5):c.474-10_474-9del rs2529032063
NM_001025603.2(RFX5):c.474-2A>G rs2102065180
NM_001025603.2(RFX5):c.495G>A (p.Arg165=) rs1650787152
NM_001025603.2(RFX5):c.495G>T (p.Arg165Ser) rs1650787152
NM_001025603.2(RFX5):c.498G>A (p.Arg166=) rs201026596
NM_001025603.2(RFX5):c.4G>A (p.Ala2Thr) rs886045283
NM_001025603.2(RFX5):c.543G>A (p.Lys181=) rs2102065030
NM_001025603.2(RFX5):c.544G>A (p.Gly182Ser) rs146781151
NM_001025603.2(RFX5):c.544G>C (p.Gly182Arg) rs146781151
NM_001025603.2(RFX5):c.555+11A>G
NM_001025603.2(RFX5):c.555+19del rs2529031109
NM_001025603.2(RFX5):c.555+1G>A rs367771361
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.556-2A>G rs1571260171
NM_001025603.2(RFX5):c.556-5T>G rs2102064223
NM_001025603.2(RFX5):c.55_56dup (p.Gly20fs) rs758904746
NM_001025603.2(RFX5):c.56C>A (p.Pro19Gln) rs548049340
NM_001025603.2(RFX5):c.56C>G (p.Pro19Arg) rs548049340
NM_001025603.2(RFX5):c.56dup (p.Gly20fs) rs758904746
NM_001025603.2(RFX5):c.582del (p.Ala195fs) rs2529028222
NM_001025603.2(RFX5):c.602del (p.Val201fs) rs1557832711
NM_001025603.2(RFX5):c.609del (p.Ala204fs) rs1571260017
NM_001025603.2(RFX5):c.612G>C (p.Ala204=) rs145006845
NM_001025603.2(RFX5):c.619C>G (p.Leu207Val) rs2102064014
NM_001025603.2(RFX5):c.635C>T (p.Ala212Val) rs940480924
NM_001025603.2(RFX5):c.646C>G (p.Leu216Val)
NM_001025603.2(RFX5):c.649A>G (p.Lys217Glu) rs2102063939
NM_001025603.2(RFX5):c.675G>A (p.Glu225=)
NM_001025603.2(RFX5):c.683G>C (p.Arg228Pro) rs755224518
NM_001025603.2(RFX5):c.69G>A (p.Glu23=) rs2529050634
NM_001025603.2(RFX5):c.719C>G (p.Ser240Cys) rs1650729647
NM_001025603.2(RFX5):c.722C>T (p.Ala241Val) rs1256795581
NM_001025603.2(RFX5):c.750G>A (p.Gly250=)
NM_001025603.2(RFX5):c.757+19A>C rs1650721374
NM_001025603.2(RFX5):c.757+19_757+20del
NM_001025603.2(RFX5):c.757+1G>A rs775183383
NM_001025603.2(RFX5):c.758-19del
NM_001025603.2(RFX5):c.775C>T (p.Pro259Ser) rs896685181
NM_001025603.2(RFX5):c.784C>G (p.Arg262Gly) rs773920954
NM_001025603.2(RFX5):c.784C>T (p.Arg262Trp) rs773920954
NM_001025603.2(RFX5):c.795A>G (p.Lys265=) rs2102062698
NM_001025603.2(RFX5):c.803A>G (p.Asn268Ser) rs1571258872
NM_001025603.2(RFX5):c.809T>G (p.Leu270Ter) rs2529024443
NM_001025603.2(RFX5):c.826G>A (p.Gly276Arg) rs2102062601
NM_001025603.2(RFX5):c.828A>T (p.Gly276=) rs2102062593
NM_001025603.2(RFX5):c.844G>C (p.Glu282Gln) rs2529024118
NM_001025603.2(RFX5):c.858+19C>T rs1650677745
NM_001025603.2(RFX5):c.858+4A>G rs1650680698
NM_001025603.2(RFX5):c.858+6G>C rs1650680124
NM_001025603.2(RFX5):c.858+9G>A rs1650679522
NM_001025603.2(RFX5):c.859-11T>G
NM_001025603.2(RFX5):c.859-13C>G rs774653892
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_001025603.2(RFX5):c.859-3T>C rs966028876
NM_001025603.2(RFX5):c.859-8C>A rs1650655164
NM_001025603.2(RFX5):c.859-9_859-5del rs1650654563
NM_001025603.2(RFX5):c.87C>T (p.Thr29=)
NM_001025603.2(RFX5):c.904C>G (p.Arg302Gly) rs757930556
NM_001025603.2(RFX5):c.915G>A (p.Arg305=)
NM_001025603.2(RFX5):c.922A>G (p.Ser308Gly) rs776686358
NM_001025603.2(RFX5):c.923G>C (p.Ser308Thr) rs371591077
NM_001025603.2(RFX5):c.939G>A (p.Ser313=) rs1319132683
NM_001025603.2(RFX5):c.944C>T (p.Pro315Leu) rs2529020997
NM_001025603.2(RFX5):c.949G>C (p.Ala317Pro) rs1650638294
NM_001025603.2(RFX5):c.960G>A (p.Leu320=) rs2102061456
NM_001025603.2(RFX5):c.975A>G (p.Leu325=) rs2529020662
NM_001025603.2(RFX5):c.97A>G (p.Arg33Gly) rs2529050489

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