ClinVar Miner

List of variants in gene GAMT reported as pathogenic for not provided

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Total variants: 10
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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.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
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.476T>C (p.Leu159Pro) rs2144636453
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143

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