ClinVar Miner

List of variants reported as likely pathogenic for Glycine encephalopathy by Baylor Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000170.3(GLDC):c.1059-1G>T rs1587958061
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu) rs1817626324
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1063dup (p.Ser355fs) rs2471145466
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer) rs2471161209
NM_000481.4(AMT):c.339+2T>C rs2471158020
NM_000481.4(AMT):c.419dup (p.Tyr141fs) rs2471154458
NM_000481.4(AMT):c.471+2_471+7del rs2471154253
NM_000481.4(AMT):c.657dup (p.Val220fs) rs2049058298
NM_000481.4(AMT):c.665G>T (p.Arg222Leu) rs562695274
NM_000481.4(AMT):c.696G>A (p.Glu232=) rs1352631535
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer) rs2471146213

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