ClinVar Miner

List of variants in gene GAMT reported as uncertain significance for not specified

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) rs757909053 0.00006
NM_000156.6(GAMT):c.217A>G (p.Ile73Val) rs771107085 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp) rs368221789 0.00001
NC_000019.9:g.(?_1397025)_1397484del
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) rs1600158346
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477

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