ClinVar Miner

List of variants in gene AMT, NICN1 studied 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: 22
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HGVS dbSNP
NC_000003.12:g.(?_49421482)_(49424348_?)del
NM_000481.4(AMT):c.-1G>A rs143841175
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.18_19TG[1] (p.Val7fs) rs1575309867
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709
NM_000481.4(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.4(AMT):c.63del (p.Leu22fs) rs386833688
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
NM_032316.3(NICN1):c.*2328C>T rs386833677

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