ClinVar Miner

List of variants studied for Non-ketotic hyperglycinemia by Baylor Genetics

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
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_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys) rs766928717 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
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.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.46C>T (p.Gln16Ter) rs2049124862 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
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.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 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.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu) rs1819724719
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer) rs2049020585
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.259-2A>T
NM_000481.4(AMT):c.339+2T>C
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.471+2_471+7del
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
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)
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266

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