ClinVar Miner

List of variants in gene RFXANK reported as uncertain significance for MHC class II deficiency

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
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.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.338-13C>G rs749579925 0.00006
NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) rs140748502 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.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.37A>T (p.Thr13Ser) rs373342097 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.82G>A (p.Gly28Arg) rs559367724 0.00004
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.240C>T (p.Asn80=) rs754519730 0.00002
NM_003721.4(RFXANK):c.287A>G (p.Gln96Arg) rs775653093 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.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.175T>G (p.Ser59Ala) rs1197099934 0.00001
NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp) rs368808881 0.00001
NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys) rs779382779 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.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.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.589G>A (p.Ala197Thr) rs745335142 0.00001
NM_003721.4(RFXANK):c.661G>A (p.Asp221Asn) rs1479307125 0.00001
NM_003721.3(RFXANK):c.-495C>G rs886054308
NM_003721.4(RFXANK):c.148G>A (p.Val50Met)
NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu) rs1364864540
NM_003721.4(RFXANK):c.169A>G (p.Ser57Gly)
NM_003721.4(RFXANK):c.191G>T (p.Gly64Val) rs2060609779
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.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.380C>A (p.Pro127His)
NM_003721.4(RFXANK):c.380C>G (p.Pro127Arg)
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.436T>G (p.Trp146Gly) rs1301129319
NM_003721.4(RFXANK):c.438+5G>T rs1196984337
NM_003721.4(RFXANK):c.449C>G (p.Pro150Arg) rs2146492497
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.485C>T (p.Ser162Leu) rs753776724
NM_003721.4(RFXANK):c.501C>T (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.524T>C (p.Leu175Pro) rs2060635912
NM_003721.4(RFXANK):c.533A>T (p.Glu178Val)
NM_003721.4(RFXANK):c.551A>G (p.Asn184Ser) rs140946419
NM_003721.4(RFXANK):c.564+6G>A rs928203836
NM_003721.4(RFXANK):c.575C>G (p.Thr192Arg)
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.629T>C (p.Leu210Pro) rs2146496301
NM_003721.4(RFXANK):c.631G>A (p.Ala211Thr) rs1277340509
NM_003721.4(RFXANK):c.655G>A (p.Glu219Lys)
NM_003721.4(RFXANK):c.691G>A (p.Val231Met)
NM_003721.4(RFXANK):c.701G>A (p.Gly234Glu) rs2060654956
NM_003721.4(RFXANK):c.707G>A (p.Arg236Gln)
NM_003721.4(RFXANK):c.77A>G (p.Asp26Gly)

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