List of variants reported as pathogenic for Deficiency of guanidinoacetate methyltransferase by ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)	rs886054247	0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)	rs370421531	0.00003
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000156.6(GAMT):c.145del (p.Tyr49fs)	rs1384688313	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs)	rs1460147564
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)	rs80338736
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)	rs1369786965
NM_000156.6(GAMT):c.328-2A>G	rs2082621259
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)	rs556829801
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter)	rs1600158570
NM_000156.6(GAMT):c.48C>A (p.Cys16Ter)
NM_000156.6(GAMT):c.491del (p.Gly164fs)	rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs)	rs749390953
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)	rs1600158346
NM_000156.6(GAMT):c.526dup (p.Glu176fs)	rs2144636246
NM_000156.6(GAMT):c.58dup (p.Trp20fs)
NM_000156.6(GAMT):c.64dup (p.Ala22fs)	rs1569009071

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