ClinVar Miner

List of variants reported as pathogenic for inborn disorder of serine family metabolism by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
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_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu) rs386833576 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NC_000009.11:g.(6620320_6644613)_(6645693_?)del
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1580+2T>G rs1554646710
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.675C>A (p.Cys225Ter)
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_001024845.3(SLC6A9):c.31-764_31-763del
NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter)
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.874C>T (p.Gln292Ter) rs749134845

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