ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_003721.4(RFXANK):c.-298C>T rs573479798
NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu)
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe)
NM_003721.4(RFXANK):c.187+13C>T rs201778172
NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr) rs150525759
NM_003721.4(RFXANK):c.188-11C>T rs201545133
NM_003721.4(RFXANK):c.191G>T (p.Gly64Val)
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200
NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp) rs368808881
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730
NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys) rs779382779
NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu)
NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis) rs1568578747
NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr)
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg)
NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp) rs764895631
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln) rs752109217
NM_003721.4(RFXANK):c.337+5G>A rs752168879
NM_003721.4(RFXANK):c.338-13C>G rs749579925
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe)
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) rs779039407
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787
NM_003721.4(RFXANK):c.438+4C>T rs749058206
NM_003721.4(RFXANK):c.438+5G>A
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr)
NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala) rs1156936548
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.514A>G (p.Ile172Val) rs886054309
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) rs372111384
NM_003721.4(RFXANK):c.536G>A (p.Arg179His)
NM_003721.4(RFXANK):c.540C>T (p.Asp180=)
NM_003721.4(RFXANK):c.595C>T (p.Arg199Cys) rs749859039
NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg) rs748578827
NM_003721.4(RFXANK):c.602A>T (p.Asn201Ile) rs1599785560
NM_003721.4(RFXANK):c.612A>G (p.Lys204=) rs201676379
NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) rs140748502
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) rs757517948
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359
NM_134440.2(RFXANK):c.-495C>G rs886054308

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