List of variants in gene combination AMT, NICN1 reported as pathogenic for amino acid metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_032316.3(NICN1):c.*2328C>T	rs386833677	0.00004
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)	rs2049124862	0.00001
NM_032316.3(NICN1):c.*2325C>T	rs753743263	0.00001
NC_000003.12:g.(?_49421482)_(49424348_?)del
NM_000481.4(AMT):c.10del (p.Ala4fs)
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.20_21del (p.Val7fs)	rs1575309867
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.59del (p.Pro20fs)	rs386833686
NM_000481.4(AMT):c.59dup (p.Ala21fs)	rs386833686
NM_000481.4(AMT):c.74del (p.Pro25fs)

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