ClinVar Miner

Variants in gene CHRNA1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) 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 gnomAD frequency
NM_001039523.2(CHRNA1):c.-478A>G rs16862847 0.13301
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000079.4(CHRNA1):c.-8G>A rs138563328 0.00270
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008

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