List of variants in gene AMT reported as pathogenic for Glycine encephalopathy 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)	rs121964986	0.00002
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	rs781466698	0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His)	rs562695274	0.00001
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)	rs2049020585
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683

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