ClinVar Miner

List of variants in gene LOC130009573, RFXAP studied for MHC class II deficiency

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_000538.4(RFXAP):c.-101T>G rs566055344 0.00037
NM_000538.4(RFXAP):c.-82G>C rs1049387935 0.00036
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_000538.4(RFXAP):c.129A>G (p.Gln43=) rs762143349 0.00011
NM_000538.4(RFXAP):c.27C>T (p.Gly9=) rs1049663849 0.00006
NM_000538.4(RFXAP):c.14G>T (p.Gly5Val) rs571468892 0.00005
NM_000538.4(RFXAP):c.148C>A (p.Gln50Lys) rs1267956141 0.00004
NM_000538.4(RFXAP):c.-116C>G rs886050141 0.00003
NM_000538.4(RFXAP):c.118G>T (p.Ala40Ser) rs1320172546 0.00003
NM_000538.4(RFXAP):c.55C>T (p.Pro19Ser) rs1483760429 0.00003
NM_000538.4(RFXAP):c.108G>C (p.Ser36=) rs1383786589 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_000538.3(RFXAP):c.-144G>A rs886050140 0.00001
NM_000538.4(RFXAP):c.-131C>T rs1021353605 0.00001
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val) rs1344939848 0.00001
NM_000538.4(RFXAP):c.54G>T (p.Val18=) rs770791539 0.00001
NM_000538.4(RFXAP):c.59A>G (p.His20Arg) rs775615242 0.00001
NM_000538.3(RFXAP):c.-142T>C rs2057951998
NM_000538.4(RFXAP):c.-105C>A rs527311083
NM_000538.4(RFXAP):c.101C>G (p.Pro34Arg) rs2057953877
NM_000538.4(RFXAP):c.108_125del (p.Val37_Ser42del) rs1266956441
NM_000538.4(RFXAP):c.115G>C (p.Ala39Pro) rs1024812180
NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512
NM_000538.4(RFXAP):c.123C>T (p.Ala41=) rs764409673
NM_000538.4(RFXAP):c.135C>T (p.Thr45=)
NM_000538.4(RFXAP):c.150A>G (p.Gln50=) rs761195790
NM_000538.4(RFXAP):c.150A>T (p.Gln50His) rs761195790
NM_000538.4(RFXAP):c.152C>T (p.Pro51Leu) rs2057954189
NM_000538.4(RFXAP):c.20C>T (p.Ala7Val)
NM_000538.4(RFXAP):c.29C>T (p.Ala10Val)
NM_000538.4(RFXAP):c.2T>C (p.Met1Thr) rs2057953200
NM_000538.4(RFXAP):c.36G>T (p.Pro12=)
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs) rs2138212278
NM_000538.4(RFXAP):c.51C>T (p.Gly17=) rs2138212292
NM_000538.4(RFXAP):c.52G>T (p.Val18Leu) rs1232670161
NM_000538.4(RFXAP):c.58C>T (p.His20Tyr) rs1555302467
NM_000538.4(RFXAP):c.84G>A (p.Ala28=)
NM_000538.4(RFXAP):c.9G>C (p.Ala3=)
NM_000538.4(RFXAP):c.9G>T (p.Ala3=) rs771794648

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