ClinVar Miner

List of variants in gene combination AMT, NICN1 reported as uncertain significance for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709
NM_000481.4(AMT):c.78T>C (p.Leu26=) rs764624214
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038
NM_000481.4(AMT):c.86C>T (p.Ala29Val)
NM_032316.3(NICN1):c.*2157G>A
NM_032316.3(NICN1):c.*2177G>A rs573551723
NM_032316.3(NICN1):c.*2247T>C rs750502117
NM_032316.3(NICN1):c.*2266dup rs886058684
NM_032316.3(NICN1):c.*2283C>G
NM_032316.3(NICN1):c.*2283C>T
NM_032316.3(NICN1):c.*2307G>C rs544461335
NM_032316.3(NICN1):c.*2317A>G rs1553638927
NM_032316.3(NICN1):c.*2325C>T rs753743263

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