List of variants in gene AMT reported as likely 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)	rs121964982	0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.259-2A>T	rs748522054	0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	rs779483959	0.00001
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)	rs1056820947	0.00001
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)	rs768940499
NM_000481.4(AMT):c.125A>G (p.His42Arg)	rs121964983
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)	rs1483890972
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)	rs2471158260
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)	rs386833682
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)	rs1366977126
NM_000481.4(AMT):c.91-1G>T	rs2049119534

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