ClinVar Miner

List of variants studied for MHC class II deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000538.4(RFXAP):c.*550T>C rs9547679 0.84878
NM_001025603.2(RFX5):c.*283A>G rs1752387 0.78764
NM_000246.4(CIITA):c.*910T>C rs1139564 0.71323
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_001025603.2(RFX5):c.*888T>C rs7552906 0.62946
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000538.4(RFXAP):c.*1253G>A rs10976 0.17219
NM_003721.4(RFXANK):c.-116T>C rs1050483 0.17071
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) rs2229322 0.09639
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) rs34685848 0.06730
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) rs2229317 0.06359
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_003721.4(RFXANK):c.-240A>T rs73922821 0.04278
NM_000246.4(CIITA):c.*690C>T rs11074940 0.03881
NM_000246.4(CIITA):c.*735G>A rs34538398 0.03616
NM_000246.4(CIITA):c.*911G>A rs45466393 0.03491
NM_001025603.2(RFX5):c.*244A>G rs2233857 0.03351
NM_000246.4(CIITA):c.225C>T (p.Cys75=) rs2229318 0.03257
NM_003721.4(RFXANK):c.-229C>T rs79003009 0.03213
NM_003721.4(RFXANK):c.712+4A>G rs73922830 0.03058
NM_003721.4(RFXANK):c.*9T>C rs73922832 0.03001
NM_003721.4(RFXANK):c.-366C>A rs116660619 0.02905
NM_000246.4(CIITA):c.*158G>A rs45451491 0.02886
NM_000538.4(RFXAP):c.*1092A>G rs17054519 0.02297
NM_000246.4(CIITA):c.2472C>T (p.His824=) rs45621432 0.02015
NM_000538.4(RFXAP):c.*55A>G rs7321405 0.01975
NM_003721.4(RFXANK):c.*12C>T rs10413280 0.01716
NM_001025603.2(RFX5):c.64G>A (p.Ala22Thr) rs2233843 0.01686
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) rs78108426 0.01496
NM_000246.4(CIITA):c.2286C>A (p.Ile762=) rs35976871 0.01268
NM_000538.4(RFXAP):c.410T>C (p.Met137Thr) rs193240312 0.01125
NM_000246.4(CIITA):c.*261C>T rs45447897 0.01013
NM_000246.4(CIITA):c.-46G>A rs115659359 0.00978
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) rs75521576 0.00964
NM_000538.4(RFXAP):c.*719C>T rs115679698 0.00957
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) rs2229319 0.00945
NM_001025603.2(RFX5):c.900C>T (p.Leu300=) rs2233853 0.00879
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00866
NM_000246.4(CIITA):c.*644C>G rs139802594 0.00727
NM_000246.4(CIITA):c.*103T>C rs45617532 0.00711
NM_000246.4(CIITA):c.200-10T>C rs45474796 0.00588
NM_001025603.2(RFX5):c.-67T>G rs138110902 0.00585
NM_001025603.2(RFX5):c.*1084A>C rs116826799 0.00576
NM_000246.4(CIITA):c.*157C>T rs45526038 0.00565
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498 0.00545
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) rs150205851 0.00483
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_000246.4(CIITA):c.-84C>T rs45519531 0.00447
NM_000538.3(RFXAP):c.*1826delT rs142735439 0.00435
NM_001025603.2(RFX5):c.*1413A>C rs368014716 0.00425
NM_000538.4(RFXAP):c.*472C>T rs150569371 0.00380
NM_000246.4(CIITA):c.*414T>C rs141707720 0.00346
NM_001025603.2(RFX5):c.*1520_*1521insATT rs529662057 0.00330
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000538.4(RFXAP):c.*479G>A rs117112761 0.00251
NM_000246.4(CIITA):c.*927G>A rs45538933 0.00239
NM_000538.4(RFXAP):c.354G>C (p.Ser118=) rs113555392 0.00220
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_001025603.2(RFX5):c.*838A>G rs552790524 0.00197
NM_000538.4(RFXAP):c.*1194A>G rs11539183 0.00175
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972 0.00165
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000538.4(RFXAP):c.756A>G (p.Gln252=) rs141918438 0.00087
NM_001025603.2(RFX5):c.-91G>A rs555635380 0.00081
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_000538.4(RFXAP):c.312C>T (p.Ser104=) rs373233313 0.00056
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.*1126T>G rs145729250 0.00046
NM_000246.4(CIITA):c.*395T>C rs754661893 0.00046
NM_001025603.2(RFX5):c.1039T>C (p.Ser347Pro) rs199761884 0.00045
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
NM_000246.4(CIITA):c.*126G>A rs565569961 0.00039
NM_000538.4(RFXAP):c.-101T>G rs566055344 0.00037
NM_000538.4(RFXAP):c.-82G>C rs1049387935 0.00036
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_001025603.2(RFX5):c.*1158G>A rs147378847 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.-115T>G rs189636033 0.00031
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp) rs113889330 0.00031
NM_001025603.2(RFX5):c.982C>A (p.Arg328=) rs78854744 0.00031
NM_000246.4(CIITA):c.*849T>C rs182641396 0.00030
NM_003721.4(RFXANK):c.-298C>T rs573479798 0.00030
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_000538.3(RFXAP):c.*1730G>A rs559608963 0.00027
NM_000538.4(RFXAP):c.*818A>G rs545155315 0.00027
NM_001025603.2(RFX5):c.*1177C>T rs567453441 0.00025
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_001025603.2(RFX5):c.*373G>T rs886045280 0.00022
NM_000246.4(CIITA):c.*673G>A rs779237900 0.00021
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_001025603.2(RFX5):c.*364A>C rs769251514 0.00021
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) rs144353639 0.00021
NM_000246.4(CIITA):c.*351C>T rs553581549 0.00019
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_001025603.2(RFX5):c.-131-15T>C rs190371864 0.00019
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_000246.4(CIITA):c.-83C>T rs534663824 0.00015
NM_000538.4(RFXAP):c.*201T>A rs530498685 0.00015
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_003721.4(RFXANK):c.660C>T (p.Ala220=) rs138423094 0.00014
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123 0.00013
NM_000246.4(CIITA):c.294C>T (p.Ile98=) rs200299817 0.00012
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000246.4(CIITA):c.*524A>G rs886051644 0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=) rs201907821 0.00011
NM_000246.4(CIITA):c.352A>G (p.Ile118Val) rs142443082 0.00011
NM_000538.3(RFXAP):c.*1551A>G rs939525340 0.00011
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440 0.00011
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000246.4(CIITA):c.*163C>T rs989760698 0.00009
NM_000246.4(CIITA):c.*267A>C rs761701057 0.00009
NM_000246.4(CIITA):c.*303C>T rs779795769 0.00009
NM_000246.4(CIITA):c.*314C>A rs185592699 0.00009
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala) rs201080914 0.00009
NM_000246.4(CIITA):c.3235G>A (p.Val1079Ile) rs150452306 0.00009
NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys) rs201754085 0.00009
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00009
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu) rs140885618 0.00009
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634 0.00009
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) rs779039407 0.00009
NM_000246.4(CIITA):c.*164G>A rs570910497 0.00008
NM_001025603.2(RFX5):c.*1078C>T rs886045278 0.00008
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000246.4(CIITA):c.616G>A (p.Asp206Asn) rs771338224 0.00007
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1517C>T (p.Ala506Val) rs200354120 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.5G>A (p.Arg2His) rs755048657 0.00006
NM_003721.4(RFXANK):c.338-13C>G rs749579925 0.00006
NM_000246.4(CIITA):c.*203C>T rs527874709 0.00005
NM_000246.4(CIITA):c.3063-12G>T rs559875711 0.00005
NM_001025603.2(RFX5):c.*1330C>T rs886045276 0.00005
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe) rs142461365 0.00005
NM_000246.4(CIITA):c.*1092C>T rs886051646 0.00004
NM_000246.4(CIITA):c.*824T>C rs773206666 0.00004
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00004
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) rs751445508 0.00004
NM_000246.4(CIITA):c.3052G>A (p.Glu1018Lys) rs747047617 0.00004
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn) rs371115213 0.00004
NM_001025603.2(RFX5):c.433G>C (p.Asp145His) rs999104857 0.00004
NM_000246.4(CIITA):c.*182C>G rs1264537500 0.00003
NM_000246.4(CIITA):c.*236G>A rs558642278 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000246.4(CIITA):c.2409G>A (p.Ala803=) rs755302593 0.00003
NM_000246.4(CIITA):c.2442C>T (p.His814=) rs746490057 0.00003
NM_000246.4(CIITA):c.3357C>T (p.His1119=) rs754706834 0.00003
NM_000246.4(CIITA):c.781C>T (p.Pro261Ser) rs757943329 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000538.4(RFXAP):c.-116C>G rs886050141 0.00003
NM_000538.4(RFXAP):c.192C>G (p.Ser64Arg) rs758076793 0.00003
NM_000538.4(RFXAP):c.801T>C (p.Phe267=) rs536976297 0.00003
NM_001025603.2(RFX5):c.984G>A (p.Arg328=) rs374283593 0.00003
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604 0.00003
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) rs372111384 0.00003
NM_000246.4(CIITA):c.3318-8C>G rs201115726 0.00002
NM_001025603.2(RFX5):c.*881C>T rs1245339817 0.00002
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala) rs376672819 0.00002
NM_001025603.2(RFX5):c.807T>G (p.Gly269=) rs147137349 0.00002
NM_001025603.2(RFX5):c.858+13G>A rs778371620 0.00002
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730 0.00002
NM_003721.4(RFXANK):c.536G>A (p.Arg179His) rs562901844 0.00002
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) rs757517948 0.00002
NM_000246.4(CIITA):c.*493T>C rs886051643 0.00001
NM_000246.4(CIITA):c.*587A>G rs374276437 0.00001
NM_000246.4(CIITA):c.*658G>A rs1019236857 0.00001
NM_000246.4(CIITA):c.*667T>C rs1177422629 0.00001
NM_000246.4(CIITA):c.-82G>A rs886051635 0.00001
NM_000246.4(CIITA):c.1211C>T (p.Ala404Val) rs1392912244 0.00001
NM_000246.4(CIITA):c.1241G>A (p.Arg414Gln) rs572327540 0.00001
NM_000246.4(CIITA):c.1376C>T (p.Pro459Leu) rs774567918 0.00001
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) rs748330320 0.00001
NM_000246.4(CIITA):c.2087A>G (p.Gln696Arg) rs886051642 0.00001
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) rs1319022837 0.00001
NM_000246.4(CIITA):c.2458G>A (p.Gly820Arg) rs2039291800 0.00001
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) rs755515727 0.00001
NM_000246.4(CIITA):c.2834A>C (p.Glu945Ala) rs747917501 0.00001
NM_000246.4(CIITA):c.3149+11C>T rs371453398 0.00001
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu) rs757017931 0.00001
NM_000246.4(CIITA):c.63G>C (p.Gln21His) rs748905238 0.00001
NM_000538.3(RFXAP):c.*1387T>C rs886050145 0.00001
NM_000538.3(RFXAP):c.*1703A>T rs997203433 0.00001
NM_000538.3(RFXAP):c.-144G>A rs886050140 0.00001
NM_000538.4(RFXAP):c.*351G>A rs1396109192 0.00001
NM_000538.4(RFXAP):c.*488A>G rs1265459000 0.00001
NM_000538.4(RFXAP):c.-131C>T rs1021353605 0.00001
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val) rs1344939848 0.00001
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.1090A>G (p.Thr364Ala) rs1290400173 0.00001
NM_001025603.2(RFX5):c.1746G>C (p.Lys582Asn) rs750907232 0.00001
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly) rs1267411733 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003721.4(RFXANK):c.514A>G (p.Ile172Val) rs886054309 0.00001
NM_003721.4(RFXANK):c.540C>T (p.Asp180=) rs576657199 0.00001
NM_000246.4(CIITA):c.*1122A>G rs1446926082
NM_000246.4(CIITA):c.*23-7G>C rs4780336
NM_000246.4(CIITA):c.*307G>A rs112026375
NM_000246.4(CIITA):c.*378G>A rs751268540
NM_000246.4(CIITA):c.*48G>C rs1201649733
NM_000246.4(CIITA):c.*570G>A rs886051645
NM_000246.4(CIITA):c.*708C>A rs952463695
NM_000246.4(CIITA):c.*709G>T rs551164286
NM_000246.4(CIITA):c.1075A>G (p.Ile359Val) rs2039171491
NM_000246.4(CIITA):c.1148C>T (p.Ala383Val) rs763945523
NM_000246.4(CIITA):c.1215G>T (p.Lys405Asn) rs886051638
NM_000246.4(CIITA):c.1296A>T (p.Ala432=) rs886051639
NM_000246.4(CIITA):c.147C>T (p.His49=) rs886051636
NM_000246.4(CIITA):c.1493T>C (p.Leu498Pro) rs886051640
NM_000246.4(CIITA):c.1927G>T (p.Gly643Cys) rs949731275
NM_000246.4(CIITA):c.1971G>T (p.Leu657=) rs886051641
NM_000246.4(CIITA):c.2078G>A (p.Gly693Asp) rs146380734
NM_000246.4(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.2816+14C>T rs191941806
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.3062+14G>A rs370557976
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.366A>T (p.Ile122=) rs535705691
NM_000246.4(CIITA):c.491C>G (p.Pro164Arg) rs886051637
NM_000246.4(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000246.4(CIITA):c.773-11C>T rs767721211
NM_000246.4(CIITA):c.961T>C (p.Cys321Arg) rs2039023316
NM_000538.3(RFXAP):c.*1431_*1432delGT rs886050146
NM_000538.3(RFXAP):c.*1541G>C rs2057988057
NM_000538.3(RFXAP):c.*1663G>A rs886050147
NM_000538.3(RFXAP):c.-142T>C rs2057951998
NM_000538.4(RFXAP):c.*1240G>T rs886050144
NM_000538.4(RFXAP):c.*33del rs398022347
NM_000538.4(RFXAP):c.*660A>T rs2057985302
NM_000538.4(RFXAP):c.*81G>A rs886050143
NM_000538.4(RFXAP):c.-105C>A rs527311083
NM_000538.4(RFXAP):c.601-4C>T rs886050142
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.-131-8C>A rs886045284
NM_001025603.2(RFX5):c.129G>A (p.Gln43=) rs1651009031
NM_001025603.2(RFX5):c.1604dup (p.Asp536fs) rs1557829931
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_001025603.2(RFX5):c.4G>A (p.Ala2Thr) rs886045283
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_003721.3(RFXANK):c.-495C>G rs886054308
NM_003721.4(RFXANK):c.-328G>A rs62135502
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg) rs2060615482
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe) rs2060623718
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys) rs115964828

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