ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000156.6(GAMT):c.*11C>T rs149268921 0.01866
NM_000156.6(GAMT):c.*89C>A rs558767159 0.00362
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) rs751099274 0.00009
NM_000156.6(GAMT):c.201G>A (p.Val67=) rs745986528 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00003
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.486G>A (p.Pro162=) rs368650653 0.00002
NM_000156.6(GAMT):c.54C>T (p.Pro18=) rs960874258 0.00002
NM_000156.6(GAMT):c.*136C>A rs566649324 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.408G>A (p.Thr136=) rs772974568 0.00001
NM_000156.6(GAMT):c.414A>G (p.Pro138=) rs1376380710 0.00001
NM_000156.6(GAMT):c.39C>A (p.Gly13=) rs1262796024

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