ClinVar Miner

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

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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000538.4(RFXAP):c.*550T>C rs9547679 0.84878
NM_000538.4(RFXAP):c.*1253G>A rs10976 0.17219
NM_000538.4(RFXAP):c.*1092A>G rs17054519 0.02297
NM_000538.4(RFXAP):c.*55A>G rs7321405 0.01975
NM_000538.4(RFXAP):c.*719C>T rs115679698 0.00957
NM_000538.3(RFXAP):c.*1826delT rs142735439 0.00435
NM_000538.4(RFXAP):c.*472C>T rs150569371 0.00380
NM_000538.4(RFXAP):c.*479G>A rs117112761 0.00251
NM_000538.4(RFXAP):c.354G>C (p.Ser118=) rs113555392 0.00220
NM_000538.4(RFXAP):c.*1194A>G rs11539183 0.00175
NM_000538.4(RFXAP):c.756A>G (p.Gln252=) rs141918438 0.00087
NM_000538.4(RFXAP):c.788G>A (p.Arg263Lys) rs144169233 0.00061
NM_000538.4(RFXAP):c.312C>T (p.Ser104=) rs373233313 0.00056
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_000538.3(RFXAP):c.*1730G>A rs559608963 0.00027
NM_000538.4(RFXAP):c.*818A>G rs545155315 0.00027
NM_000538.4(RFXAP):c.*201T>A rs530498685 0.00015
NM_000538.4(RFXAP):c.711G>A (p.Ser237=) rs760354012 0.00013
NM_000538.3(RFXAP):c.*1551A>G rs939525340 0.00011
NM_000538.4(RFXAP):c.236G>A (p.Gly79Glu) rs1458111935 0.00006
NM_000538.4(RFXAP):c.297G>C (p.Pro99=) rs183370317 0.00005
NM_000538.4(RFXAP):c.341A>T (p.Glu114Val) rs957064804 0.00005
NM_000538.4(RFXAP):c.273C>G (p.Asp91Glu) rs770867769 0.00004
NM_000538.4(RFXAP):c.625A>G (p.Ile209Val) rs374481240 0.00004
NM_000538.4(RFXAP):c.192C>G (p.Ser64Arg) rs758076793 0.00003
NM_000538.4(RFXAP):c.232G>C (p.Ala78Pro) rs777571548 0.00003
NM_000538.4(RFXAP):c.801T>C (p.Phe267=) rs536976297 0.00003
NM_000538.4(RFXAP):c.814A>G (p.Met272Val) rs772726674 0.00003
NM_000538.4(RFXAP):c.699A>G (p.Gln233=) rs202180471 0.00002
NM_000538.4(RFXAP):c.733G>C (p.Val245Leu) rs1267840324 0.00002
NM_000538.3(RFXAP):c.*1387T>C rs886050145 0.00001
NM_000538.3(RFXAP):c.*1703A>T rs997203433 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.184G>A (p.Gly62Arg) rs2057954457 0.00001
NM_000538.4(RFXAP):c.222G>A (p.Leu74=) rs1460528998 0.00001
NM_000538.4(RFXAP):c.265G>C (p.Glu89Gln) rs1290515755 0.00001
NM_000538.4(RFXAP):c.279A>C (p.Leu93Phe) rs985061791 0.00001
NM_000538.4(RFXAP):c.287C>T (p.Ser96Leu) rs749368415 0.00001
NM_000538.4(RFXAP):c.302G>A (p.Gly101Glu) rs1474685587 0.00001
NM_000538.4(RFXAP):c.333A>G (p.Leu111=) rs1310252099 0.00001
NM_000538.4(RFXAP):c.345G>A (p.Glu115=) rs1303614696 0.00001
NM_000538.4(RFXAP):c.353C>T (p.Ser118Leu) rs1227387067 0.00001
NM_000538.4(RFXAP):c.658C>T (p.Arg220Cys) rs528882868 0.00001
NM_000538.4(RFXAP):c.672T>C (p.Pro224=) rs866409620 0.00001
NM_000538.4(RFXAP):c.673A>G (p.Thr225Ala) rs2057975347 0.00001
NM_000538.4(RFXAP):c.708+13T>C rs1159381746 0.00001
NM_000538.4(RFXAP):c.715C>G (p.Leu239Val) rs774923624 0.00001
NM_000538.4(RFXAP):c.738A>G (p.Gln246=) rs557694029 0.00001
NC_000013.10:g.(?_37399545)_(37401890_?)del
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_000538.4(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.154T>C (p.Cys52Arg)
NM_000538.4(RFXAP):c.160G>C (p.Gly54Arg) rs2057954224
NM_000538.4(RFXAP):c.175G>A (p.Ala59Thr) rs867140153
NM_000538.4(RFXAP):c.180C>T (p.Ala60=)
NM_000538.4(RFXAP):c.182C>G (p.Pro61Arg) rs868311919
NM_000538.4(RFXAP):c.188del (p.Gly63fs) rs1388967331
NM_000538.4(RFXAP):c.203dup (p.Lys69fs) rs1249595284
NM_000538.4(RFXAP):c.204C>T (p.Gly68=) rs2057954653
NM_000538.4(RFXAP):c.214A>G (p.Arg72Gly)
NM_000538.4(RFXAP):c.227A>G (p.Glu76Gly)
NM_000538.4(RFXAP):c.276G>T (p.Leu92=) rs1593529954
NM_000538.4(RFXAP):c.281A>C (p.Asp94Ala)
NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)
NM_000538.4(RFXAP):c.290A>T (p.Asp97Val)
NM_000538.4(RFXAP):c.292C>A (p.Pro98Thr) rs2057955091
NM_000538.4(RFXAP):c.297G>A (p.Pro99=)
NM_000538.4(RFXAP):c.298G>A (p.Gly100Arg)
NM_000538.4(RFXAP):c.298G>C (p.Gly100Arg) rs774581579
NM_000538.4(RFXAP):c.298G>T (p.Gly100Trp)
NM_000538.4(RFXAP):c.302G>C (p.Gly101Ala) rs1474685587
NM_000538.4(RFXAP):c.303A>G (p.Gly101=)
NM_000538.4(RFXAP):c.306C>A (p.Gly102=) rs772207747
NM_000538.4(RFXAP):c.306C>T (p.Gly102=)
NM_000538.4(RFXAP):c.323T>A (p.Leu108Ter) rs754240018
NM_000538.4(RFXAP):c.331C>A (p.Leu111Ile)
NM_000538.4(RFXAP):c.343G>A (p.Glu115Lys) rs1593530039
NM_000538.4(RFXAP):c.358G>A (p.Gly120Ser)
NM_000538.4(RFXAP):c.359G>A (p.Gly120Asp) rs199978715
NM_000538.4(RFXAP):c.359G>T (p.Gly120Val) rs199978715
NM_000538.4(RFXAP):c.359del (p.Gly120fs) rs1224857205
NM_000538.4(RFXAP):c.368del (p.Ser123fs)
NM_000538.4(RFXAP):c.436T>C (p.Cys146Arg)
NM_000538.4(RFXAP):c.601-4C>T rs886050142
NM_000538.4(RFXAP):c.606T>C (p.Ser202=)
NM_000538.4(RFXAP):c.615del (p.Asn205fs) rs2057975002
NM_000538.4(RFXAP):c.634_637del (p.Gln212fs) rs2057975113
NM_000538.4(RFXAP):c.674C>T (p.Thr225Ile)
NM_000538.4(RFXAP):c.708+13_708+16del
NM_000538.4(RFXAP):c.708+7_708+8del rs2138217454
NM_000538.4(RFXAP):c.709-16T>G rs2138218937
NM_000538.4(RFXAP):c.709-7_709-4del rs749945016
NM_000538.4(RFXAP):c.718A>G (p.Arg240Gly)
NM_000538.4(RFXAP):c.719G>A (p.Arg240Lys) rs2057982517
NM_000538.4(RFXAP):c.722G>A (p.Ser241Asn)
NM_000538.4(RFXAP):c.732A>G (p.Val244=)
NM_000538.4(RFXAP):c.742T>G (p.Leu248Val) rs2138218991
NM_000538.4(RFXAP):c.765A>G (p.Leu255=)
NM_000538.4(RFXAP):c.793C>T (p.Gln265Ter) rs972571212

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