ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000538.3(RFXAP):c.*1826delT rs142735439 0.00435
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_000538.4(RFXAP):c.788G>A (p.Arg263Lys) rs144169233 0.00041
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_000538.3(RFXAP):c.*1551A>G rs939525340 0.00011
NM_000538.4(RFXAP):c.236G>A (p.Gly79Glu) rs1458111935 0.00006
NM_000538.4(RFXAP):c.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.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.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.353C>T (p.Ser118Leu) rs1227387067 0.00001
NM_000538.4(RFXAP):c.658C>T (p.Arg220Cys) rs528882868 0.00001
NM_000538.4(RFXAP):c.673A>G (p.Thr225Ala) rs2057975347 0.00001
NM_000538.4(RFXAP):c.715C>G (p.Leu239Val) rs774923624 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.*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.182C>G (p.Pro61Arg) rs868311919
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.281A>C (p.Asp94Ala)
NM_000538.4(RFXAP):c.290A>T (p.Asp97Val)
NM_000538.4(RFXAP):c.292C>A (p.Pro98Thr) rs2057955091
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.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.436T>C (p.Cys146Arg)
NM_000538.4(RFXAP):c.601-4C>T rs886050142
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.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.742T>G (p.Leu248Val) rs2138218991
NM_000538.4(RFXAP):c.793C>T (p.Gln265Ter) rs972571212

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