ClinVar Miner

Variants in gene AMT with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP
NM_000481.3(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.3(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.3(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.3(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_001164710.2(AMT):c.340-442_340-428del rs386833683

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