ClinVar Miner

List of variants in gene RFXANK reported as likely benign for MHC class II deficiency

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Gene type:
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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.-116T>C rs1050483 0.17071
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.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
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.529C>G (p.Leu177Val) rs151053440 0.00011
NM_003721.4(RFXANK):c.654C>T (p.Thr218=) rs8862 0.00011
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.708G>T (p.Arg236=) rs781614267 0.00006
NM_003721.4(RFXANK):c.363C>T (p.Asp121=) rs139803434 0.00005
NM_003721.4(RFXANK):c.272-4C>G rs771378351 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.639C>T (p.Gly213=) rs745918077 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.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.291C>T (p.Leu97=) rs533275724 0.00002
NM_003721.4(RFXANK):c.439-7C>T rs768383806 0.00002
NM_003721.4(RFXANK):c.132C>T (p.Pro44=) rs745351660 0.00001
NM_003721.4(RFXANK):c.272-17C>T rs778375881 0.00001
NM_003721.4(RFXANK):c.393C>T (p.Ala131=) rs768102688 0.00001
NM_003721.4(RFXANK):c.438+8C>G rs768313740 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.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.678G>A (p.Pro226=) rs1407074151 0.00001
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.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.216T>G (p.Thr72=) rs2146483458
NM_003721.4(RFXANK):c.228G>T (p.Arg76=) rs2146483573
NM_003721.4(RFXANK):c.271+17T>A
NM_003721.4(RFXANK):c.272-16C>T rs201966435
NM_003721.4(RFXANK):c.272-20C>G
NM_003721.4(RFXANK):c.337+16C>T
NM_003721.4(RFXANK):c.337+18T>C
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.378C>A (p.Thr126=)
NM_003721.4(RFXANK):c.381C>T (p.Pro127=)
NM_003721.4(RFXANK):c.399C>T (p.Ala133=)
NM_003721.4(RFXANK):c.438+13C>A rs761381018
NM_003721.4(RFXANK):c.439-11_439-9del rs529519604
NM_003721.4(RFXANK):c.439-5T>C
NM_003721.4(RFXANK):c.453C>T (p.His151=) rs934876275
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.529C>T (p.Leu177=) rs151053440
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys) rs115964828
NM_003721.4(RFXANK):c.537T>C (p.Arg179=)
NM_003721.4(RFXANK):c.561T>C (p.Asp187=)
NM_003721.4(RFXANK):c.564+18C>T
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.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.600G>T (p.Gly200=)
NM_003721.4(RFXANK):c.606C>T (p.His202=) rs554811149
NM_003721.4(RFXANK):c.628C>T (p.Leu210=)
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.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.669C>A (p.Gly223=)
NM_003721.4(RFXANK):c.675C>A (p.Thr225=)
NM_003721.4(RFXANK):c.702A>T (p.Gly234=)
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.81C>T (p.Pro27=)

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