ClinVar Miner

List of variants studied for Deficiency of guanidinoacetate methyltransferase by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.570+161T>A rs368296913 0.00035
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_000156.6(GAMT):c.167C>T (p.Ala56Val) rs575350720 0.00003
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00001

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