ClinVar Miner

List of variants in gene RFXANK studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.-116T>C rs1050483 0.17071
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_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.-366C>A rs116660619 0.02905
NM_003721.4(RFXANK):c.439-13C>T rs181297102 0.00339
NM_003721.4(RFXANK):c.337+4C>T rs187331767 0.00316
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319 0.00053
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
NM_003721.4(RFXANK):c.-298C>T rs573479798 0.00030
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_003721.4(RFXANK):c.660C>T (p.Ala220=) rs138423094 0.00014
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln) rs752109217 0.00011
NM_003721.4(RFXANK):c.349G>A (p.Val117Ile) rs145448880 0.00011
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440 0.00011
NM_003721.4(RFXANK):c.654C>T (p.Thr218=) rs8862 0.00011
NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr) rs150525759 0.00010
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634 0.00009
NM_003721.4(RFXANK):c.337+5G>A rs752168879 0.00009
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) rs779039407 0.00009
NM_003721.4(RFXANK):c.439-4G>T rs556678969 0.00008
NM_003721.4(RFXANK):c.187+9C>G rs550887272 0.00007
NM_003721.4(RFXANK):c.337+17_337+18del rs771868032 0.00006
NM_003721.4(RFXANK):c.338-13C>G rs749579925 0.00006
NM_003721.4(RFXANK):c.396C>T (p.Ser132=) rs751013566 0.00006
NM_003721.4(RFXANK):c.417C>T (p.Thr139=) rs755182393 0.00006
NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) rs140748502 0.00006
NM_003721.4(RFXANK):c.708G>T (p.Arg236=) rs781614267 0.00006
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe) rs142461365 0.00005
NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp) rs764895631 0.00005
NM_003721.4(RFXANK):c.363C>T (p.Asp121=) rs139803434 0.00005
NM_003721.4(RFXANK):c.595C>T (p.Arg199Cys) rs749859039 0.00005
NM_003721.4(RFXANK):c.62T>C (p.Leu21Pro) rs761951873 0.00005
NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu) rs545211228 0.00004
NM_003721.4(RFXANK):c.272-4C>G rs771378351 0.00004
NM_003721.4(RFXANK):c.37A>T (p.Thr13Ser) rs373342097 0.00004
NM_003721.4(RFXANK):c.39C>A (p.Thr13=) rs763281760 0.00004
NM_003721.4(RFXANK):c.565-6C>T rs566002293 0.00004
NM_003721.4(RFXANK):c.596G>A (p.Arg199His) rs769155207 0.00004
NM_003721.4(RFXANK):c.612A>G (p.Lys204=) rs201676379 0.00004
NM_003721.4(RFXANK):c.639C>T (p.Gly213=) rs745918077 0.00004
NM_003721.4(RFXANK):c.82G>A (p.Gly28Arg) rs559367724 0.00004
NM_003721.4(RFXANK):c.188-17T>C rs773482897 0.00003
NM_003721.4(RFXANK):c.188-19C>T rs200486698 0.00003
NM_003721.4(RFXANK):c.258G>C (p.Pro86=) rs747424282 0.00003
NM_003721.4(RFXANK):c.444C>T (p.Ala148=) rs772802002 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_003721.4(RFXANK):c.677C>T (p.Pro226Leu) rs377347305 0.00003
NM_003721.4(RFXANK):c.690C>T (p.Ala230=) rs751945050 0.00003
NM_003721.4(RFXANK):c.162G>A (p.Pro54=) rs774635371 0.00002
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730 0.00002
NM_003721.4(RFXANK):c.287A>G (p.Gln96Arg) rs775653093 0.00002
NM_003721.4(RFXANK):c.291C>T (p.Leu97=) rs533275724 0.00002
NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr) rs149659335 0.00002
NM_003721.4(RFXANK):c.305A>T (p.Glu102Val) rs766230948 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_003721.4(RFXANK):c.439-7C>T rs768383806 0.00002
NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr) rs780019385 0.00002
NM_003721.4(RFXANK):c.536G>A (p.Arg179His) rs562901844 0.00002
NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg) rs748578827 0.00002
NM_003721.4(RFXANK):c.599G>C (p.Gly200Ala) rs772154823 0.00002
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) rs757517948 0.00002
NM_003721.4(RFXANK):c.64G>C (p.Gly22Arg) rs968833538 0.00002
NM_003721.4(RFXANK):c.112G>A (p.Val38Met) rs1290480803 0.00001
NM_003721.4(RFXANK):c.132C>T (p.Pro44=) rs745351660 0.00001
NM_003721.4(RFXANK):c.175T>G (p.Ser59Ala) rs1197099934 0.00001
NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp) rs368808881 0.00001
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter) rs779699696 0.00001
NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys) rs779382779 0.00001
NM_003721.4(RFXANK):c.272-17C>T rs778375881 0.00001
NM_003721.4(RFXANK):c.272-3C>T rs781550325 0.00001
NM_003721.4(RFXANK):c.367C>T (p.Arg123Cys) rs775003911 0.00001
NM_003721.4(RFXANK):c.368G>A (p.Arg123His) rs762597760 0.00001
NM_003721.4(RFXANK):c.370G>A (p.Gly124Ser) rs377750233 0.00001
NM_003721.4(RFXANK):c.383del (p.Leu128fs) rs770387882 0.00001
NM_003721.4(RFXANK):c.393C>T (p.Ala131=) rs768102688 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003721.4(RFXANK):c.438+4C>T rs749058206 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_003721.4(RFXANK):c.438+8C>G rs768313740 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala) rs1156936548 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_003721.4(RFXANK):c.564+19C>T rs777559481 0.00001
NM_003721.4(RFXANK):c.567T>C (p.Asn189=) rs758267512 0.00001
NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro) rs751386365 0.00001
NM_003721.4(RFXANK):c.589G>A (p.Ala197Thr) rs745335142 0.00001
NM_003721.4(RFXANK):c.591T>C (p.Ala197=) rs755666778 0.00001
NM_003721.4(RFXANK):c.615C>T (p.Cys205=) rs1390107544 0.00001
NM_003721.4(RFXANK):c.631+13C>T rs886501679 0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NM_003721.4(RFXANK):c.661G>A (p.Asp221Asn) rs1479307125 0.00001
NM_003721.4(RFXANK):c.678G>A (p.Pro226=) rs1407074151 0.00001
NC_000019.9:g.(?_19304756)_(19304962_?)del
NM_003721.3(RFXANK):c.-495C>G rs886054308
NM_003721.4(RFXANK):c.-328G>A rs62135502
NM_003721.4(RFXANK):c.108C>T (p.Asp36=)
NM_003721.4(RFXANK):c.117C>T (p.Val39=)
NM_003721.4(RFXANK):c.148G>A (p.Val50Met)
NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu) rs1364864540
NM_003721.4(RFXANK):c.163del (p.Asp55fs)
NM_003721.4(RFXANK):c.169A>G (p.Ser57Gly)
NM_003721.4(RFXANK):c.183A>G (p.Pro61=)
NM_003721.4(RFXANK):c.188-10T>C
NM_003721.4(RFXANK):c.188-15T>C
NM_003721.4(RFXANK):c.188-19C>G
NM_003721.4(RFXANK):c.188-20G>A
NM_003721.4(RFXANK):c.188-2del rs2146483253
NM_003721.4(RFXANK):c.191G>T (p.Gly64Val) rs2060609779
NM_003721.4(RFXANK):c.216T>G (p.Thr72=) rs2146483458
NM_003721.4(RFXANK):c.228G>T (p.Arg76=) rs2146483573
NM_003721.4(RFXANK):c.25G>A (p.Asp9Asn)
NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis) rs1568578747
NM_003721.4(RFXANK):c.271+17T>A
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.271+1delinsTCAC rs2060611603
NM_003721.4(RFXANK):c.271_271+1insCTGCC rs1568578781
NM_003721.4(RFXANK):c.272-16C>T rs201966435
NM_003721.4(RFXANK):c.272-20C>G
NM_003721.4(RFXANK):c.280A>G (p.Ile94Val)
NM_003721.4(RFXANK):c.285C>G (p.His95Gln) rs770144513
NM_003721.4(RFXANK):c.28C>G (p.Leu10Val) rs2060549059
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg) rs2060615482
NM_003721.4(RFXANK):c.31A>T (p.Ile11Phe) rs1009789125
NM_003721.4(RFXANK):c.337+16C>T
NM_003721.4(RFXANK):c.337+18T>C
NM_003721.4(RFXANK):c.337+2_337+3del rs1568579235
NM_003721.4(RFXANK):c.338-12T>C
NM_003721.4(RFXANK):c.338-13C>A
NM_003721.4(RFXANK):c.338-15G>A rs750773472
NM_003721.4(RFXANK):c.338-15G>C
NM_003721.4(RFXANK):c.338-16C>T
NM_003721.4(RFXANK):c.339T>C (p.Gly113=)
NM_003721.4(RFXANK):c.339T>G (p.Gly113=) rs374843362
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.378C>A (p.Thr126=)
NM_003721.4(RFXANK):c.380C>A (p.Pro127His)
NM_003721.4(RFXANK):c.380C>G (p.Pro127Arg)
NM_003721.4(RFXANK):c.381C>T (p.Pro127=)
NM_003721.4(RFXANK):c.399C>T (p.Ala133=)
NM_003721.4(RFXANK):c.400T>C (p.Phe134Leu) rs2146488425
NM_003721.4(RFXANK):c.404G>A (p.Gly135Glu)
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe) rs2060623718
NM_003721.4(RFXANK):c.410T>C (p.Ile137Thr)
NM_003721.4(RFXANK):c.418G>A (p.Val140Ile)
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003721.4(RFXANK):c.436T>G (p.Trp146Gly) rs1301129319
NM_003721.4(RFXANK):c.438+13C>A rs761381018
NM_003721.4(RFXANK):c.438+5G>T rs1196984337
NM_003721.4(RFXANK):c.439-11_439-9del rs529519604
NM_003721.4(RFXANK):c.439-5T>C
NM_003721.4(RFXANK):c.449C>G (p.Pro150Arg) rs2146492497
NM_003721.4(RFXANK):c.453C>T (p.His151=) rs934876275
NM_003721.4(RFXANK):c.460del (p.Ala154fs) rs2060634316
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.47C>A (p.Thr16Asn) rs764499202
NM_003721.4(RFXANK):c.47C>T (p.Thr16Ile) rs764499202
NM_003721.4(RFXANK):c.481del (p.Leu161fs) rs2146492780
NM_003721.4(RFXANK):c.485C>T (p.Ser162Leu) rs753776724
NM_003721.4(RFXANK):c.501C>T (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.516T>C (p.Ile172=)
NM_003721.4(RFXANK):c.51T>A (p.Pro17=)
NM_003721.4(RFXANK):c.51T>C (p.Pro17=)
NM_003721.4(RFXANK):c.522G>A (p.Gly174=)
NM_003721.4(RFXANK):c.523C>T (p.Leu175=) rs2060635866
NM_003721.4(RFXANK):c.524T>C (p.Leu175Pro) rs2060635912
NM_003721.4(RFXANK):c.529C>T (p.Leu177=) rs151053440
NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter) rs2146493181
NM_003721.4(RFXANK):c.533A>T (p.Glu178Val)
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys) rs115964828
NM_003721.4(RFXANK):c.537T>C (p.Arg179=)
NM_003721.4(RFXANK):c.551A>G (p.Asn184Ser) rs140946419
NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter) rs1599784374
NM_003721.4(RFXANK):c.561T>C (p.Asp187=)
NM_003721.4(RFXANK):c.564+18C>T
NM_003721.4(RFXANK):c.564+2T>C
NM_003721.4(RFXANK):c.564+6G>A rs928203836
NM_003721.4(RFXANK):c.564+9C>T rs1599784412
NM_003721.4(RFXANK):c.565-13C>T rs578037994
NM_003721.4(RFXANK):c.565-16C>T
NM_003721.4(RFXANK):c.565-9C>T rs2146495686
NM_003721.4(RFXANK):c.573G>A (p.Gly191=) rs2146495815
NM_003721.4(RFXANK):c.575C>G (p.Thr192Arg)
NM_003721.4(RFXANK):c.585G>A (p.Leu195=)
NM_003721.4(RFXANK):c.588C>T (p.Tyr196=)
NM_003721.4(RFXANK):c.597C>T (p.Arg199=)
NM_003721.4(RFXANK):c.599_600del (p.Gly200fs) rs2146496053
NM_003721.4(RFXANK):c.600G>T (p.Gly200=)
NM_003721.4(RFXANK):c.600del (p.Asn201fs)
NM_003721.4(RFXANK):c.602A>T (p.Asn201Ile) rs1599785560
NM_003721.4(RFXANK):c.604C>T (p.His202Tyr)
NM_003721.4(RFXANK):c.606C>G (p.His202Gln) rs554811149
NM_003721.4(RFXANK):c.606C>T (p.His202=) rs554811149
NM_003721.4(RFXANK):c.628C>T (p.Leu210=)
NM_003721.4(RFXANK):c.629T>C (p.Leu210Pro) rs2146496301
NM_003721.4(RFXANK):c.631+14G>A
NM_003721.4(RFXANK):c.631+16G>A
NM_003721.4(RFXANK):c.631+16G>T
NM_003721.4(RFXANK):c.631+19T>G
NM_003721.4(RFXANK):c.631+7G>A rs2060644938
NM_003721.4(RFXANK):c.631G>A (p.Ala211Thr) rs1277340509
NM_003721.4(RFXANK):c.632-15_632-11del rs777515154
NM_003721.4(RFXANK):c.632-18C>T
NM_003721.4(RFXANK):c.632-19C>T
NM_003721.4(RFXANK):c.632-4G>T rs556595003
NM_003721.4(RFXANK):c.642T>C (p.Ala214=)
NM_003721.4(RFXANK):c.648C>T (p.Leu216=)
NM_003721.4(RFXANK):c.654C>A (p.Thr218=)
NM_003721.4(RFXANK):c.655G>A (p.Glu219Lys)
NM_003721.4(RFXANK):c.669C>A (p.Gly223=)
NM_003721.4(RFXANK):c.675C>A (p.Thr225=)
NM_003721.4(RFXANK):c.691G>A (p.Val231Met)
NM_003721.4(RFXANK):c.6delinsCTTA (p.Glu2delinsAspLeu)
NM_003721.4(RFXANK):c.701G>A (p.Gly234Glu) rs2060654956
NM_003721.4(RFXANK):c.702A>T (p.Gly234=)
NM_003721.4(RFXANK):c.707G>A (p.Arg236Gln)
NM_003721.4(RFXANK):c.712+13C>T
NM_003721.4(RFXANK):c.712+19G>C
NM_003721.4(RFXANK):c.712+20_712+21del rs2146500055
NM_003721.4(RFXANK):c.77A>G (p.Asp26Gly)
NM_003721.4(RFXANK):c.81C>T (p.Pro27=)
NM_003721.4(RFXANK):c.8_11del (p.Leu3fs)

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