ClinVar Miner

List of variants in gene AMT, NICN1 studied for amino acid metabolism disease

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.-1G>A rs143841175 0.00328
NM_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_032316.3(NICN1):c.*2247T>C rs750502117 0.00021
NM_032316.3(NICN1):c.*2177G>A rs573551723 0.00009
NM_000481.4(AMT):c.13G>T (p.Val5Leu) rs764032357 0.00006
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_000481.4(AMT):c.43C>T (p.Leu15=) rs775112005 0.00002
NM_000481.4(AMT):c.78T>C (p.Leu26=) rs764624214 0.00002
NM_032316.3(NICN1):c.*2157G>A rs1244431682 0.00002
NM_000481.4(AMT):c.22G>A (p.Val8Met) rs759853191 0.00001
NM_000481.4(AMT):c.29G>A (p.Arg10His) rs150649086 0.00001
NM_000481.4(AMT):c.46C>T (p.Gln16Ter) rs2049124862 0.00001
NM_000481.4(AMT):c.52T>C (p.Phe18Leu) rs778523705 0.00001
NM_000481.4(AMT):c.54C>T (p.Phe18=) rs914716059 0.00001
NM_000481.4(AMT):c.59C>T (p.Pro20Leu) rs749087037 0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_032316.3(NICN1):c.*2317A>G rs1553638927 0.00001
NM_032316.3(NICN1):c.*2325C>T rs753743263 0.00001
NC_000003.11:g.(?_49456384)_(49459947_?)dup
NC_000003.12:g.(?_49421482)_(49424348_?)del
NM_000481.4(AMT):c.10G>C (p.Ala4Pro) rs753829515
NM_000481.4(AMT):c.10del (p.Ala4fs)
NM_000481.4(AMT):c.12T>A (p.Ala4=)
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.16del (p.Ser6fs) rs1553638907
NM_000481.4(AMT):c.18T>C (p.Ser6=)
NM_000481.4(AMT):c.20_21del (p.Val7fs) rs1575309867
NM_000481.4(AMT):c.21G>C (p.Val7=)
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
NM_000481.4(AMT):c.2T>A (p.Met1Lys) rs1266259634
NM_000481.4(AMT):c.2T>C (p.Met1Thr) rs1266259634
NM_000481.4(AMT):c.35G>A (p.Gly12Asp)
NM_000481.4(AMT):c.3G>A (p.Met1Ile) rs2107938475
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
NM_000481.4(AMT):c.41G>A (p.Arg14His)
NM_000481.4(AMT):c.42C>T (p.Arg14=) rs2107938326
NM_000481.4(AMT):c.57C>T (p.Pro19=) rs770512923
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.59dup (p.Ala21fs) rs386833686
NM_000481.4(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
NM_000481.4(AMT):c.63del (p.Leu22fs) rs386833688
NM_000481.4(AMT):c.66G>A (p.Leu22=) rs2107938211
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
NM_000481.4(AMT):c.6G>A (p.Gln2=)
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
NM_000481.4(AMT):c.70C>T (p.Arg24Cys) rs371656220
NM_000481.4(AMT):c.73C>T (p.Pro25Ser) rs751869343
NM_000481.4(AMT):c.74del (p.Pro25fs)
NM_000481.4(AMT):c.75A>G (p.Pro25=)
NM_000481.4(AMT):c.77T>A (p.Leu26His)
NM_000481.4(AMT):c.81T>C (p.Ser27=) rs2107938151
NM_000481.4(AMT):c.86C>T (p.Ala29Val) rs2049122995
NM_000481.4(AMT):c.87A>G (p.Ala29=)
NM_000481.4(AMT):c.90+10A>G
NM_000481.4(AMT):c.90+10A>T rs1415657857
NM_000481.4(AMT):c.90+12G>A
NM_000481.4(AMT):c.90+13G>A
NM_000481.4(AMT):c.90+1G>T
NM_000481.4(AMT):c.90+20T>C
NM_000481.4(AMT):c.90+4G>A rs2107938113
NM_000481.4(AMT):c.90+5G>C
NM_000481.4(AMT):c.90+9G>C rs1447827681
NM_032316.3(NICN1):c.*2266dup rs886058684
NM_032316.3(NICN1):c.*2283C>G rs192377809
NM_032316.3(NICN1):c.*2283C>T rs192377809
NM_032316.3(NICN1):c.*2359_*2468del rs2049123051
NM_032316.3(NICN1):c.*634G>C rs1416250958

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