ClinVar Miner

Variants in gene RAG2 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) rs756694972

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