ClinVar Miner

List of variants in gene CIITA studied for not provided

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.*103T>C rs45617532 0.00711
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.3108C>T (p.Ala1036=) rs150276623 0.00215
NM_000246.4(CIITA):c.2658-138G>A rs199476075 0.00134
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.3318-176C>T rs199476081 0.00078
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_000246.4(CIITA):c.3063-163T>C rs199476078 0.00038
NM_000246.3(CIITA):c.-521A>G rs199476056 0.00020
NM_000246.4(CIITA):c.207C>G (p.Asp69Glu) rs199476061 0.00019
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1148C>A (p.Ala383Asp) rs763945523 0.00012
NM_000246.4(CIITA):c.1007-94A>G rs199476067 0.00009
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr) rs199476070 0.00006
NM_000246.3(CIITA):c.-415C>T rs199476058 0.00005
NM_000246.4(CIITA):c.1702G>A (p.Gly568Ser) rs749343874 0.00004
NM_000246.4(CIITA):c.3153G>A (p.Leu1051=) rs143507445 0.00004
NM_000246.4(CIITA):c.2658-149G>T rs199476074 0.00003
NM_000246.4(CIITA):c.2816+188T>G rs199476076 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000246.3(CIITA):c.-168G>A rs199476059 0.00001
NM_000246.4(CIITA):c.1907C>T (p.Thr636Met) rs2039243918 0.00001
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys) rs199476072 0.00001
NM_000246.4(CIITA):c.481+167G>A rs199476063 0.00001
NM_000246.3(CIITA):c.-696C>T rs199476055
NM_000246.4(CIITA):c.1007-54C>T rs199476068
NM_000246.4(CIITA):c.1957C>A (p.Pro653Thr) rs199476071
NM_000246.4(CIITA):c.2290del (p.Gln764fs) rs1064794659
NM_000246.4(CIITA):c.2608C>T (p.Pro870Ser)
NM_000246.4(CIITA):c.2657+107C>A rs199476073
NM_000246.4(CIITA):c.2765C>G (p.Ala922Gly)
NM_000246.4(CIITA):c.2945C>T (p.Ala982Val) rs199476077
NM_000246.4(CIITA):c.3149+224C>G rs199476079
NM_000246.4(CIITA):c.3150-77A>C rs199476080
NM_000246.4(CIITA):c.3244A>G (p.Asn1082Asp)
NM_000246.4(CIITA):c.3317+2dup rs1596616722
NM_000246.4(CIITA):c.359-23G>T rs199476062
NM_000246.4(CIITA):c.482-162C>T rs199476064
NM_000246.4(CIITA):c.484G>A (p.Glu162Lys)
NM_000246.4(CIITA):c.580G>A (p.Glu194Lys) rs199476065
NM_000246.4(CIITA):c.628+84G>A rs199476066

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