List of variants in gene AMT reported as benign 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.259-109T>G	rs4855873	0.42055
NM_000481.4(AMT):c.*696C>T	rs10640	0.29031
NM_000481.4(AMT):c.954G>A (p.Arg318=)	rs11715915	0.28593
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_000481.4(AMT):c.898A>G (p.Met300Val)	rs144971200	0.00397
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)	rs141246107	0.00299
NM_000481.4(AMT):c.510G>C (p.Val170=)	rs140380954	0.00091
NM_000481.4(AMT):c.354G>A (p.Leu118=)	rs145194293	0.00072
NM_000481.4(AMT):c.101G>A (p.Arg34His)	rs138259479	0.00032
NM_000481.4(AMT):c.471+10del
NM_000481.4(AMT):c.471+10dup
NM_000481.4(AMT):c.471+12_471+13del	rs370772505
NM_000481.4(AMT):c.513C>T (p.Gly171=)	rs555045517

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