ClinVar Miner

Variants in gene CIITA with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.772+8C>T rs557455283

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