ClinVar Miner

Variants in gene AMT 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: 4
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517

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