ClinVar Miner

Variants in gene CIITA with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) rs201657235 0.00014
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe) rs756970534 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.531C>T (p.Ser177=) rs188055251

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