ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of guanidinoacetate methyltransferase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 0.00003
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000156.6(GAMT):c.114C>T (p.Gly38=) rs2082632873 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.113dup (p.Lys39fs)
NM_000156.6(GAMT):c.115A>G (p.Lys39Glu)
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000156.6(GAMT):c.148_149dup (p.Met50fs)
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
NM_000156.6(GAMT):c.160G>C (p.Ala54Pro)
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) rs1300512258
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys)
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
NM_000156.6(GAMT):c.301del (p.Asp101fs) rs780806777
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000156.6(GAMT):c.324_325del (p.His108fs) rs2144638048
NM_000156.6(GAMT):c.327+1G>T rs2144638033
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter) rs2144637546
NM_000156.6(GAMT):c.356dup (p.Asp119fs) rs2144637533
NM_000156.6(GAMT):c.391+1G>C rs1600158894
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) rs747656257
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
NM_000156.6(GAMT):c.475del (p.Leu159fs)
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) rs2144636453
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) rs1483148182
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.50del (p.Ser17fs)
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg) rs891042971
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.526del (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.564G>T (p.Met188Ile)
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter) rs80338734
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)
NM_000156.6(GAMT):c.64del (p.Ala22fs) rs1569009071
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.