ClinVar Miner

List of variants reported as uncertain significance for Deficiency of guanidinoacetate methyltransferase by Fulgent Genetics, Fulgent Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.-78C>T rs886054249 0.00043
NM_000156.6(GAMT):c.-79G>A rs966975299 0.00043
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 0.00024
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971

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